technical implementation report - webgate.ec.europa.eu · the project for 115 128 € (29%), but in addition AFM contacted pres sand media in France to ensure broad dissemination

EUROPEAN CONFERENCE ON RARE DISEASES 2005 LUXEMBOURG JUNE 21ST – 22ND 2005

PARACELSUS

Con t r a c t EC2004117 Te c h n i c a n I m p l e m e n t a t i o n R e p o r t

F e b r u a r y 2 0 0 6

TECHNI CAL IMPLEMENTAT ION REPORT

European Conference on Rare Diseases

ECRD2005

Luxembourg June 21st – 22nd 2005

PARACELSUS project

Contract EC-2004117

Information contained in this report is public domain.

February 2006

The Paracelsus project consisted in the organisation of the European Conference on Rare Diseases, held June 21st – 22nd in Luxembourg, organised by Eurordis and its partners, hosted by the government of Luxembourg (European Presidency), with the participation of the European Commission, and supported by Association Française contre les Myopathies AFM-Téléthon

Project Leader : Christel Nourissier, General Secretary, Eurordis Project Manager : François Houÿez, Health Policy Officer, Eurordis

Table of contents

INTRODUCTION 1

E X E C U T I V E S U M M A R Y 1

T H E P R O J E C T P A R T N E R S 3

E U R O P E A N I N S T I T U T I O N S 4

O B J E C T I V E S 5

GENERAL OBJECTIVES 5

SPECIFIC OBJECTIVES 5

ACHIEVEMENTS AND OUTCOMES 6

D E L I V E R A B L E S 6

PLANNED DELIVERABLES 6 Work package 1: Project co-ordination 6 Work package 2: The Conference 10 Work package 3: Epidemiological Surveillance of Rare Diseases 18 Work package 4: Dissemination and outreach 19

ADDITIONAL DELIVERABLES 22 Rare Diseases: understanding this Public Health Priority 23 DG Research workshop, April 2005 23

I N D I C A T O R S A N D E V A L U A T I O N 24

OUTPUT INDICATORS (§1.5 OF ANNEX 1 OF THE CONTRACT) 24 Attendance 24

ACTIVITIES INDICATORS (§2.4 ANNEX 1 OF THE CONTRACT) 26

EVALUATION BY THE PARTNERS OF THE PROJECT, THE PROGRAMME COMMITTEE AND

PARTICIPANTS 27 Reminder of the context of the ECRD2005 conference 27 Opinions from members of the programme committee 27 Feedback from participants on the content and the organisation 30

MEDIA CAMPAIGN 32

Press invitations and press kit 32 Press conference 33 Coverage 33

A S S E S S M E N T O F A C H I E V E M E N T S 34

HOW GENERAL OBJECTIVES WERE MET 34

HOW SPECIFIC OBJECTIVES WERE MET 34

SUMMARY TABLE OF DELIVERABLES 35

BUDGET 37

O V E R A L L E X P E N S E S 37

E X P E N S E S P E R H E A D I N G 37

PERSONNEL COSTS 37

TRAVEL, ACCOMMODATION AND SUBSISTENCE 37

SUBCONTRACTING 38

OTHER COSTS 38

E X T E R N A L A U D I T R E P O R T 38

CONCLUSION AND PLANS FOR ECRD2007 39

ANNEXES 40

ANNEX 1: D2.8 REPORT OF THE CONFERENCE 40

ANNEX 2: D2.1 CONFERENCE ANNOUNCEMENT 41

ANNEX 3: PROGRAMME OF THE CONFERENCE 42

ANNEX 4: LIST OF ATTENDEES 54

ANNEX 5: D2.5 EVALUATION QUESTIONNAIRE 59

ANNEX 6: MEDIA PLANNING 61

ANNEX 7: D2.6 PRESS ANNOUNCEMENT 64

ANNEX 8: D4.1 PRESS MATERIALS – PRESS RELEASE 68

ANNEX 9: D4.1 PRESS CONFERENCE – EURORDISCARE RESULTS 70

ANNEX 10: D4.1 PRESS CONFERENCE – BIOGRAPHY OF SPEAKERS 73

ANNEX 11: PRESS COVERAGE – LIST OF PUBLISHED ARTICLES 75

ANNEX 12: D3.1 EPIDEMIOLOGICAL SURVEILLANCE OF RARE DISEASES 102

ANNEX 13: RARE DISEASES, A PUBLIC HEALTH PRIORITY 103

ANNEX 14: DG RESEARCH WORKSHOP 12-13 APRIL 2005 118

ANNEX 15: EURORDIS POSITION PAPER ON FP7 123

ANNEX 16: D2.5 COMMENTS RECEIVED FROM THE PARTICIPANTS 128

E C - 2 0 0 4 1 1 7 T E C H N I C A L I M P L E M E N T A T I O N R E P O R T

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Introduction

his document describes the work carried out under the project entitled Policy Action and Information for Rare Diseases in Europe, “PARACELSUS”. The objectives of the Paracelsus were:

- To share rare disease information and knowledge in an enlarged Europe in order to reduce inequalities and provide the basis on which to develop an integrated EU approach for rare diseases

- To demonstrate the importance of EU actions on rare diseases and review progress made so far through a European Rare Disease Conference. This conference therefore served as a spearhead for the involvement of all interested parties and a broad dissemination of information and awareness on rare diseases.

The report begins with an executive summary of the project and provides an updated timeline of activities conducted. It then describes the project management, the activities successfully completed and the outcomes of the conference. Detailed information can be found in the annexes.

Executive summary n 2005, the European Conference on Rare Diseases ECRD2005 was the only European conference on rare diseases with a programme and an audience where all stakeholders were represented: patients, health care professionals, policy makers, representatives of the health industry (figure 4).

Both public health and research policies were addressed in the programme.

According to the feedback from participants, the conference was a successful event which main characteristics were:

� 320 participants from 24 countries � Representing all stakeholders: patient organisations

(48.6%), health care professionals and researchers (37.2%), policy makers (7.8%) and health industry (6.4%)

� 53 speakers/panellists � 70 posters, 12 hours of web cast � 3000 reports disseminated

The themes covered were global and common to all rare diseases: how to organise care, how to optimise research, how to develop innovative approaches, how to improve information, how to create

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synergies between patient organisations and health care professionals.

For each theme, best practices were compared and commented, thus providing a thesaurus for a coherent and comprehensive strategy for rare diseases in different policy areas and across member states.

The debates were in English with immediate interpretation to French, German, Spanish, and Polish.

This effort certainly favoured the participation of various representatives from the related countries, as shown by the figure 4 page 20.

tility of the conference

Interests for the rare diseases patient community

Opportunities to address common issues shared by patients, health care professionals, researchers, regulators, policy makers and representatives from the industry and to come forward with ideas that are debated in an open forum are not frequent. In 2005, this conference was the edition of a regular event for the rare disease community that takes place every second year. Not only it is an opportunity to address needs and present initiatives, but equally important is the opportunity to networking and meet with colleagues from all over Europe, facing the same disease or a different one.

This aspect is essential to keep the rare disease community active, enthusiast despite the reality of the diseases, and ready to face challenges.

Interests for member states

During this conference, national policy makers and health care authority representatives had a unique opportunity to present their plans and policies to an expert audience, comparing initiatives and good practices from other member states. The conference attracted policy makers from the European Commission and some member states: Luxembourg, France, Italy and Portugal. This is one more reason to organise similar events in other member states on an alternate basis.

The content of the conference: addressing a large scope of issues

� delays in diagnosis, discrimination and insufficient compensation � initiatives to improve care � cooperation between stakeholders to improve research, targeting

research to improve quality of life � accessing appropriate care, organisation of care, best practices

guidelines for care management � fighting the fragmentation of research � treating with orphan drugs � moving forward in Europe

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The project partners his conference would not have been possible without the following partners:

ÅGRENSKA CENTRE is a Swedish national competence centre for rare disorders. It provides programmes for children and young people with

disabilities, their families and for professionals concerned. Ågrenskas’ family program is directed towards families who have children with rare disabilities, and arranges about twenty family stays with different diagnosis each year. www.agrenska.se

ALAN asbl Luxembourg was founded in April 1998 as an association that wished to support people living with neuromuscular diseases and since January 2005, also people living with a rare disease. Even though ALAN was recently created, its contribution to ECRD2005 was essential: volunteers and staff contributed to the quality of the local organisation and to the welcoming of participants., in particular those who required special attention.

ALLIANCE MALADIES RARES (French Alliance for Rare Diseases) is a national alliance of 141 patient organisations. It covers approximately 1000 rare diseases and represents more than one million patients in France. www.alliance-maladies-rares.org.

EUROCAT (European Surveillance of Congenital Anomalies) is a European network of population-based registries for the epidemiologic surveillance of congenital anomalies. Currently, forty registries in nineteen European countries survey more than one million births per year. EUROCAT is currently funded under the Public Health Programme of the EC General Directorate for Health. The Central Registry is based at the University of Ulster, UK. www.eurocat.ulster.ac.uk

FEDER, Federación Española de Enfermedades Raras, is a charity organisation which represents more than 90 rare diseases support groups in Spain. Since 1999 Feder has carried out activities to raise awareness on this health and social public problem, to support these families and improve their quality of life. www.enfermedades-raras.org

ORPHANET is a European database that deals with rare diseases and orphan drugs. ORPHANET aims to improve the diagnosis, care and treatment of patients. ORPHANET includes an encyclopaedia and a directory of services: specialised outpatient clinics, clinical laboratories, research activities and support groups. Dr. Segolène Aymé, Orphanet Director and chair of the Task Force on Rare Diseases at the DG Sanco played a key role as a co-chair of the Programme Committee. www.orpha.net

RDD is an alliance of more than thirty national rare disease organisations. Rare Disorders Denmark works to improve the living

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conditions for people suffering from rare disorders and create a space for the mutual exchange of ideas and experiences. www.raredisorders.dk

SUKL (State Agency for Drug Control, Czech Republic) is the regulatory body in the Czech Republic responsible for the regulation and surveillance of human medicinal products. It is also involved in the regulation and surveillance of medical devices. www.sukl.cz

AFM (Association Française contre les Myopathies). Created in 1958, the French Muscular Dystrophy Association (AFM) is a non-profit association whose members include patients and families affected by neuromuscular diseases. Its mission is to find a cure for these diseases, most of which are of genetic origin, and assist people affected by them. Supported by the generosity of millions of donors, AFM supports more than 400 research programs each year and has contributed to the emergence of policies and structures dealing with rare diseases in France and Europe. AFM contribution to ECRD2005 was crucial: not only AFM co-funded the project for 115 128€ (29%), but in addition AFM contacted pres sand media in France to ensure broad dissemination of the press announcement and of the press release. www.afm-france.org

LIONS INTERNATIONAL Together with ALAN and AFM, Lions International participates to the annual Telethon in Luxembourg. Lions International organised a press conference on its activities for rare diseases on June 20th, 2005, the day prior to the conference.

European Institutions

EUROPEAN COMMISSION, Public Health Programme, DG Health and Consumer Protection

Programme of Community action in the field of public health (2003-2008)

The programme, meant to complement national policies, aims to protect human health and improve public health. On 23 September 2002, the European Parliament and the Council adopted a new six-year Community action programme for public health. This programme runs from the 1st of January 2003 to the 31st of December 2008.

The new programme is based on three general objectives: information, rapid reaction to health threats and health promotion through addressing health determinants. Activities such as networks, co-ordinated responses, sharing of experience, training and dissemination of information and knowledge will be inter-linked and mutually reinforcing. http://europa.eu.int/comm/health


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MINISTRY OF HEALTH, Luxembourg

The Government of Luxembourg kindly offer to include the European Conference on Rare Diseases in the programme of the European Presidency, and supported the conference by offering the centre of conference (in kind contribution to the project), local transportation between the Chamber of Commerce and the hotels, a welcome ceremony with a cocktail, interpretation and catering.

Objectives

General objectives

eneral objectives of the conference were:

To share rare disease information and knowledge in an enlarged Europe in order to reduce inequalities and provide the basis on which to

develop an integrated EU approach for rare diseases.

To demonstrate the importance of EU actions on rare diseases and review progress made so far through a European Rare Disease Conference.

Specific objectives

o fulfil our goals, the specific objectives were:

To organise a European Rare Disease Conference, under the Luxembourg EU Presidency, gathering all EU health actors, building on

current achievements and enhancing rare disease awareness.

To review the results of the EU funded rare disease projects and to establish synergies between them, to encourage information exchange between different project leaders.

To involve all stakeholders from all MS and from EU: patients, volunteers, health professionals, scientists, policy makers, health industry

To invite patient representatives and professionals to work together.

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Achievements and

outcomes

Deliverables

Planned deliverables

WORK P ACKAGE 1 : P RO J EC T CO -ORD IN AT I ON

Lead partner: Eurordis Partners involved: all

asks

The tasks of this work package were:

Task 1. Coordination and project management

� Coordination between partners � Coordination with the European Commission � Day-to day management and information on activity to partners � Accounting and administrative tasks

Task 2. Reporting

� Reporting partners � Reporting to the European Commission � Reporting to co-funders

Task 3. For the conference in Luxembourg (project management)

� Planning and coordination of preparation � Co-ordination with the programme committee

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eliverables

DELIVERABLE 1.1 – Appointment of management structure and appointment of steering committee.

The management structure:

Project leader: Christel Nourissier1 Project Legal Representative: Yann Le Cam2 Project Manager: François Houÿez3 Project Finance Manager: Patrice Régnier4 Other staff involved: Relations with patient organisations: Christina Black, Eurordis Anja Helm, Eurordis Webmaster, Eurordis website: Julia Fitzgerald, Eurordis Event assistant: William Gibon, Eurordis Administrative secretary: Eugénie Cagnac, Eurordis Annie Rahajarizafy, Eurordis

The steering committee was appointed in November 2004 and was composed of:

1. Project Leader: Christel Nourissier

2. Vice-project Leader: Rosa Sanchez de Vega5

3. Vice-project Leader: Terkel Andersen6

4. Project Legal Representative: Yann Le Cam

5. Project Manager: François Houÿez

6. Project Finance Manager: Patrice Regnier

7. Representative of Agrenska (associated beneficiary, Sweden): Anders Olauson

8. Representative of ALAN (associated beneficiary, Luxembourg): the President of ALAN (successively Betty Heimermann and Liz Goindoin-Goedert)

9. Representative of Alliance Maladies Rares (associated beneficiary, France): Stéphane Buron

10. Representative of EUROCAT (associated beneficiary, United Kingdom): Helen Dolk

1 Prader Willi France, Alliance Maladies Rares, Eurordis General Secretary

2 Eurordis CEO

3 Eurordis Health Policy Officer

4 Eurordis Finance Manager

5 Aniridia association and FEDER, Spain

6 Haemophilia association and Rare Disorders Denmark, President of Eurordis

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11. Representative of Orphanet (France): Ségolène Aymé7

12. Representative of Rare Disorders Denmark (formerly KMS, associated beneficiary, Denmark): Torben Gronnebaek

13. Representative of SULK (Czech Drug Control Agency): Milan Smid and Katarina Kubackova

DELIVERABLE 1.2 – Planning and status reports on projects

By derogation, the Commission authorised the main beneficiary to engage expenses on November 1st, 2004, prior to the contract agreement signature. This was necessary as the date of the conference (June 21st-22nd) was approaching and activities had to be launched at least six months prior to the conference.

Status reports was regularly provided to the partners (see DELIVERABLE 1.3), and other meetings took place in Luxembourg with representatives of the Government, the Chamber of Commerce, the event organiser, and the local partner ALAN.

On April 19th, 2005, an audience with Mars di Bartolomeo, Ministry of Health of the Luxembourg Government, helped co-ordinating the final phases of the organisation and of the communication.

Five months after the conference, a final meeting (with members of both the Programme Committee and the Steering Committee) was an opportunity to feedback and to identify aspects that can be improved in future conferences of this nature. This was also an opportunity to initiate the dissemination of the conference report.

7 Director of Orphanet and chair of the Task Force on Rare Diseases


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DELIVERABLE 1.3 - Steering committee meetings (2) and conference calls (5)

Date and location

Type Participants Topics

June 27th, 2004

Cork, Ireland

Steering Committee. Preparatory meeting prior to contract agreement with EC (not included in the consolidated financial report as it took place prior to November 1

st, 2004)

Christel Nourissier, Benedicte Weyl, François Houyez , Terkel Andersen, Torben Gronnebaek, Rosa Sanchez, Anders Olauson,

Paracelsus project overview: steering committee, participants, budget and funding

September 24th, 2004

Steering Committee. Preparatory meeting prior to contract agreement with EC (not included in the consolidated financial report)

Yann Le Cam, Flaminia Macchia, Terkel Andersen, Anders Olauson, Rosa Sanchez de Vega, Torben Gronnebaeck, Christel Nourissier, Stéphane Buron, Betty Heimermann, François Houÿez

State of discussion with EC, new project, new budget, role of partners

December 6th, 2004

Paris

Programme Committee face to face meeting

Ségolène Aymé, Rosa Sanchez de Vega, Prof. Hans Hilgers Ropers, Hélène Tack-Lambert, Stéphane Buron, Dr. Katarina Kubackova, Lenore Abramsky, Prof. Helen Dolk, Dr. Domenica Taruscio, Christel Nourissier, Yann Le Cam

Excused: Josep Torrent I Farnell, Violetta Anastasiadou, Terkel Andersen, Helen Dolk

Elaboration of the draft programme of the conference

January 7th, 2005

Programme Committee conference call

Idem Follow-up of the draft programme proposal, additional names and feedback from first speakers invited

January 28th, 2005

Programme Committee conference call

Idem and Violetta Anastasiadou Follow-up of the draft programme proposal, additional names and feedback from first speakers invited

April 29th, 2005 in Paris

Steering Committee face to face meeting

Terkel Andersen, Claudia Delgado, Anders Olauson, Maryna Krenkova, Stéphane Buron, Helen Dolk, Segolène Aymé, Bettina Vogel, Christel Nourissier, François Houÿez, Patrice Régnier

Progress report on the conference organisation

Progress report on registrations

Administration and accounting

Preparation of the main messages of the conference

Preparation of the press conference

May 4th, 2005 Steering Committee conference call

Christel Nourissier, John F. Ryan, François Houÿez

Registration of representatives of the EC


May 10th, 2005 Steering Committee conference call

Christel Nourissier, John F. Ryan, François Houÿez

Registration of representatives of the EC


November 23rd, 2005 in Paris

Programme Committee and Steering Committee face to face meeting

Isabel Abreu – Infarmed, Ségolène Aymé, Stéphane Buron, Liz Gondoin , Cyrus Hématy – AFM, Maryna Krenkova, Yann Le Cam, Adelia de Noronha – Infarmed, Christel Nourissier, Anders Olauson, Hans-Hilgers Ropers, Rosa Sanchez De Vega, François Houÿez, Bettina Vogel

Excused: Josep Torrent I Farnell, Violetta Anastasiadou, Terkel Andersen, Helen Dolk

Feedback from the Committees’ members

Feedback on the dissemination of the report

Financial report

First proposals for ECRD 2007 in Lisboa


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DELIVERABLE 1.4 - Progress reports and financial reports to the European Commission and co-funders

As the project duration was short, and as first payment was made on June 6th 2005, that is five months before the project termination, it was decided not to deliver an interim report but a single final report after the project has ended.

DELIVERABLE 1.5 - Final project report to the European Commission and co-funders

Due to the short duration of the project, no intermediate report was scheduled. A first payment of 125 000 € was made on June 6th, 2005. An amendment to the budget was accepted and signed by the Commission on November 16th, 2005.

The final report (both the Technical Implementation Report and the Consolidated Financial Statement) were sent to the European Commission and co-funders on February 27th, 2005.

WORK P ACKAGE 2 : TH E CONF ERENCE

Lead partner: Eurordis Partners involved: ALAN and Eurordis

his work package was the most important work package of this project. It included three main tasks: the preparation of the conference, the conduct of the conference itself, and its follow-up and evaluation.

Task1. Preparation

� Set up a programme Committee with members of the Task Force on Rare Diseases at DG Sanco (Morbidity and Mortality WP)

Members of the Programme Committee, as appointed by the Project Steering Committee were:

• Ségolène Aymé (co-chair), Leader of the Task Force on Rare Diseases and Orphanet

• Christel Nourissier (co-chair), Prader Willi, Alliance Maladies Rares, France and member of the Task Force on Rare Diseases

• Violetta Anastasiadou, member of the Task Force on Rare Diseases, Cyprus

• Terkel Andersen, Haemophilia Association, Denmark

• Stéphane Buron, Alliance Maladies Rares, France

• Elisabeth Dequeker, Department of Human Genetics, Belgium

• Helen Dolk, Faculty of Life and Health Science and Deputy Leader of the Task Force on Rare Diseases, United Kingdom

• Liz Gondoin-Goedert, ALAN, Luxembourg

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• Katarina Kubackova, University of Motol, Czech Republic

• Yann Le Cam, Eurordis

• Anders Olauson, Agrenska, Sweden

• Hans-Hilger Ropers, Max Planck Insitute for Molecular Genetics, Germany

• Rosa Sanchez de Vega, Aniridia spanish Association, FEDER, Spain

• Hélène Tack-Lambert, Association Française contre les Myopathies, France

• Domenica Taruscio, Centro Nazionale Malattie Rare, Italy and member of the Task Force on Rare Diseases

• Josep Torrent i Farnell, Committee for Orphan Medicinal Products, EMEA, European Union

Five members out of sixteen were members of the Task Force on Rare Diseases.

� Select a professional agency for logistic support

An event organiser in Luxembourg (Meetincs SA) was contracted to ensure hotel bookings, registrations, on site hostess and technical staff.

� Set up a Local Organising Committee

ALAN, associated beneficiary in Luxembourg, organised local welcoming of participants in hotels and at the Conference Centre, taking care of participants with disabilities and/or mobility difficulties.

� Secure support from the Luxembourg EU Presidency

Liaison with the Luxembourg EU Presidency was achieved through regular contacts with the Luxembourg Government, particularly the Ministry of Health, via email, telephone calls, videoconferences with the support of the services of the European Commission, and visits to Luxembourg. On April 19th, 2005, Mars di Bartolomeo,Health Ministry, hold an audience with Eurordis to prepare the conference.

Thanks to this excellent collaboration, the Government of Luxembourg kindly offer to include the European Conference on Rare Diseases in the programme of the European Presidency, and supported the conference by offering the centre of conference (in kind contribution to the project), local transportation between the Chamber of Commerce and the hotels, a welcome ceremony with a cocktail, interpretation and catering.

� Programme Committee selects themes to develop the programme Conference

Themes covered by the conference and session titles were identified as early as December 6th, 2004, during the Programme Committee meeting in Paris.

The professional

event organiser

The local Organising

Committee

The Luxembourg

EU Presidency

The preparation of

main messages


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� Secure speakers and presentations

Forty four speakers and ten discussants participated to the conference. In addition, fourteen chair persons chaired the height sessions. Invitations included forms to authorise the conference organiser to record the presentations for the web cast of the sessions and the printed report.

The Programme Committee selected seventy abstracts that were submitted as poster presentation.

� Set up mailing lists based on EC and previous conferences lists, including new Members States representatives

For the conference announcement, the project partners had the possibility to send the mailing list and addresses to Eurordis, or to disseminate the conference announcement themselves. Eurordis merged these lists with its contact database. The lists from partners included their members (National Alliances of Rare Diseases organisations) or participants to previous European conferences (Paris Evry 2003, Copenhagen 2001), or networks of researchers and health care professionals.

Additional lists were compiled: researchers who participated to FP5 and FP6, representaatives of National Competent Authorities, members of theTask Force on Rare Diseases…

� Send announcement and preliminary programme

� Send Call for Posters and select them

The annoucement included a call for abstracts. Ninety four abstracts were submitted, of which the Programme Committee selected seventy for the conference.

Task 2. The Conference

� Managing the 2-day conference

The conference took place as scheduled on June 21st-22nd at the Chamber of Commerce of Luxembourg.

� Evaluating the conference (delegates’ questionnaire)

Task 3. Follow-up

� Follow up with speakers and attendees

Speakers and attendees were contacted to obtain their expense sheets (when eligible for reimbursement), authorisation to web cast the presentations etc.

� Draft and issue the conference proceedings

From the materials presented at the conference and from the web cast, Eurordis staff prepared a report of the conference. Presenters (both oral and poster sessions) validated the content of the report.

The speakers,

presentations

and abstracts

The update of

mailing lists

The management of

The 2-day conference

The announcement,

preliminary

programme and

call for posters


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he conference web site.

A dedicated website was created for the purpose of the conference: www.rare-luxembourg2005.org. The host server is funded for one year minimum (from March 1st, 2005 to March 6th, 2006)

All web pages were translated from English to French, German, Spanish and Polish.

The main functions of the web site were:

� On-line registration and hotel booking � Information on important dates � Information on the conference (Location, dates,

access, conference venue floor plan, Organisation committee members, Programme Committee members)

� Services for people with disabilities � Documents of the press conference � Abstracts and posters � Web cast of sessions

This site has been conceived and carried out by respecting the recommendations of the W3C in matter of accessibility.

The pages of this site are in conformity with the directives Content Web Accessibility Guidelines 1.0, level Triple-A.

Site certified Triple A by "Bobby"

Site certified with US section 508 by "Bobby"

Valid pages of site XHTML 1.0

The sheet style of the site is validated.

Conference web site activity

A total of 15 361 distinct visitors connected on the conference web site, as of October 31st, 2005. A peak occurred in February - March 2005, when registration was publicly open, as shown in figure 1 below:

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Figure 1: Evolution of visits, by month. Data censored October 31st, 2005. Average numbers of visits per day are indicated in blue

Figure 2: Conference web site frequentation, by type of connection (high or low speed). Data censored October 31st, 2005.

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February March April May June July August September October

On-line

registration Webcast 15/07 Abstracts 28/09

ECRD2005

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20

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February March April May June July August September October

On-line

registration Webcast 15/07 Abstracts 28/09

ECRD2005

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20,80%

0,00%

20,00%

40,00%

60,00%

80,00%

100,00%

Low speed Internet High speed Internet


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France29%

Italy9%

Germany8%Belgium

7%Netherlands

6%

United Kingdom5%

Poland4%

Luxembourg4%

Other28%

Figure 3: frequentation of the conference web site, by country (censored October 31st, 2005)

The conference web site was well referenced with relevant keywords so that internet search engines could find it very easily. It was also advertised from Eurordis, Orphanet, European Commission, and partners’ web sites.

he report of the conference.

A printed report was published. An edited version was printed in 3 000 copies (English). This document was translated to French, German and

Spanish. It was decided not to translate the document to Polish due to the limited participation of Polish speaking persons. See annex 1 for the report. All versions are available on line on the conference web site.

The content of the report follows the debates of the conference: it reports all oral presentations, and some of the poster presentations:

� Key features of the conference (participation and funding)

� List of speakers � Introduction (extracts from the document entitled “Rare

Diseases: understanding this Public Health Priority”) � Overture � Epidemiology (including the report on the study by

Orphanet) � Diagnosing rare diseases � Rare, but existing

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� Research and care � Treatment and care � Accessing appropriate care and organisation of care � National policies against rare diseases � Patient networks � Training and information � Patients’ rights � Strategies for prevention � Closing of the conference

The English version was published on November 28th, 2005.

eliverables

DELIVERABLE 2.1 – Conference preliminary programme

The annoucement included a preliminary programme and details for registration. See annex 2 for electronic versions of the annoucement in the five languages mentionned above.

A total of 3 436 printed announcements were sent by mail, by Eurordis or by the partners: - 1 333 in English - 1 365 in French - 354 in German - 323 in Spanish - 61 in Polish

An estimated total of 8 000 distinct persons received the pre-annoucement, by printed letter or via electronic materials.

DELIVERABLE 2.2 – European Conference on Rare Diseases

The successes of the European Conference on Rare Diseases 2005 were as follows:

� 320 participants from 24 countries � Representing all stakeholders: patient organisations

(48.6%), health care professionals and researchers (37.2%), policy makers (7.8%) and health industry (6.4%)

� 100 to 150 more could have register � 53 speakers/panellists � 70 posters � 12 hours of web cast � 3000 reports disseminated

DELIVERABLE 2.3 – Conference materials: Conference programme, list of attendees

See the document “Report of the conference” page 6 to 12 for the final programme. A total of 395 programmes were printed and all were given to participants:

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- 175 in English - 120 in French - 40 in Spanish - 40 in German - 20 in Polish

Annex 3 corresponds to the programmes that were printed prior to the conference, in the five languages of the conference.

DELIVERABLE 2.4 – Poster session

70 abstracts and posters that were selected and presented are on line on the conference web site since September 28th, 2005.

DELIVERABLE 2.5 – Evaluation: questionnaire and analysis

An evaluation questionnaire was distributed to all participants. See annex 5. 46 were collected. The analysis of the 46 questionnaires received revealed that responders differed significantly from the overall participants, in terms of gender, country of origin, and occupation. Therefore, it was decided not to perform a statistical analysis of responses received, as the sample did not match the participants.

DELIVERABLE 2.6 – Press material: press kit

The main messages to communicate about (press) were highlighted during the Steering Committee Meeting, April 29th, 2005. See annex 8 for the press release that disseminated the four headlines selected: how to improve the diagnosis of rare diseases, initiatives to foster co-operation in research, plans for the creation of European centres of reference, and priority objectives for the EU 7th research framework programme.

See annex 9 for the press kit that was prepare for the press conference (June 21st, 12.30 pm, at the Chamber of Commerce): Results of the EurordisCare study on diagnosis delays.

See annex 10 for the biography of speakers at the press conference.

DELIVERABLE 2.7- Press book

Press coverage of the conference was followed-up by Eurordis, partners and the Media Contact. Articles published are listed in annex 11.

DELIVERABLE 2.8 – Conference proceedings

A Report of the Conference was written in English, 3000 copies were printed. The staff at Eurordis (François Houÿez, William Gibon) and a consultant (Flaminia Macchia) wrote the document. Each author who was mentioned has been


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consulted for the validation. It has been translated to French, Spanish and German (see above).

WORK P ACKAGE 3 : E P I DEM IO LOG I C AL S UR VE I L L ANCE OF R AR E D I S EA SE S

Lead partner: Orphanet Partners involved: Orphanet, Eurordis

asks

The tasks of this work package were to produce updated information on the prevalence of rare diseases. A research assistant, Marie Georget, was

hired for six months to review the published scientific literature. Dr. Segolène Aymé, Director of Inserm Unit SC11 and Director of Orphanet supervised the research project.

Methods

Selection of rare disease (for the purposes of the report)

- The most common rare diseases according to books and websites - The most frequently requested pages on the Orphanet website

Search strategy

- Several data sources: Websites: Orphanet, e-medicine, geneclinics and OMIM - Medline was consulted using the search algorithm: "Disease names" AND [Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/abstract] OR Epidemiology[Title/abstract] - Medical books, grey literature and reports from experts were also some important sources of available data.

Limitations of the study

- Exact prevalence rate is difficult to obtain from the available data sources - Low level of consistency between studies - Poor documentation of methods used - Confusion between incidence and prevalence - Confusion between incidence at birth and life long incidence.

eliverables

DELIVERABLE 3. – Epidemiological data and fact sheet

Full results are in annex 12.

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WORK P ACKAGE 4 : D I S S EM IN AT ION AND OUTREACH

Lead partner: Eurordis Partners involved: all

asks

The tasks of this work package were to disseminate the information exchanged at the European Conference on rare diseases:

Task 1. Dissemination of information on the European Conference on Rare Diseases

� Press Conference during the first day of the conference

� All presentations available on web site, from June 2005 (web site)

� Conference proceedings sent in October 2005 to conference participants, members of the Task Force on Rare Diseases, European policy makers, patients’ organisations

Task 2. Media relations

A professional media contact was contracted: Policy Action (Aart van Iterson and Stefan Chrobok). Their tasks were to prepare and disseminate:

� Press release to announce the conference

� Press materials and press book

eliverables

DELIVERABLE 4.1 - Press conference on the European Conference on Rare Diseases

The Press conference took place on June 21st, 2005, at the Chamber of Commerce. Speakers were Mars di Bartolomeo, Ministry of Health of the Government of Luxembourg, Fernand Sauer, European Commission, Terkel Andersen, President of Eurordis, and Christel Nourissier, Conference programme committee.

The conference started at 12.30 and finished at 14.00 pm. Sixteen journalists attended the conference.

DELIVERABLE 4.2 - Speakers’ presentations on line on web site

All speakers’ presentations are displayed on the web site of the conference (video and sound) since July 15th, 2005, except for sessions 6 and 8 (parallel session, as only one technician and one camera were available, this session could not be recorded).

Web cast consultation (as of January 26th, 2006)

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Conference

The Webcast


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The web cast was generously offered by Prous Science, Barcelona. In May 1996, Prous Science was recognised by the European Commission with the Commission's European World Wide Web Business Award '96 for best site in the medium business category.

• On-line: 15 July 2005 • 143 distinct users (500 planned)

• 620 presentations viewed • Average number of presentations per user: 4.3

Prous Science acquired the equipment to web cast sessions for all types of computers in August 2005. Therefore, viewers who are using some types of computers could not connect to the web cast, thus limiting the number of users compared to what was planned. The web cast could not be on line immediately after the conference, as not all authors had given their authorisation, and as editing required more time than previously estimated.

Session name Views (# speakers)

Ratio

S1 Overture 109 (3) 36.3

S2 Diagnosis 84 (4) 21

S3 Initiatives to improve care 107 (5) 21.4

S4 Cooperation for research 49 (5) 9.8

S5 Organisation of care 39 (4) 7.8

S7 Care management 49 (5) 9.8

S9 Orphan drugs 108 (8) 13.5

S10 Closing 77 (3) 25.7

DELIVERABLE 4.3 – Mailing of Conference proceedings (the Report)

Disseminating the report

umbers of printed reports sent, by country of destination

� 1846 printed reports were sent by Eurordis and associated partners to participants at the conference and other contacts

� 732 were posted to Members of the European Parliament

� 100 were sent to the European Commission

� 95 were sent by Orphanet and Eurocat to their network

� 87 were given to the members of the Programme and Steering Committees, and other who requested copies

� 225 are in stock for further dissemination in 2006

N The Report

dissemination


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Copies sent by Eurordis and partner patient organisations, by country of destination

Country Numbers sent

AUS 226 BEL 48 BUL 548 GER 121 CYP 326 CZE 8 DNK 66 EST 3 FIN 5 FRA 30 GRE 8 HUN 10 IRE 8 ISL 10 ITA 19 LAT 4 LIT 69 LUX 30 MAL 6 NLD 5 NOR 6 POL 15 POR 8 SLO 16 SLV 4 SPA 96 SWE 5 SWI 77 UK 26 Other 58 Total 1861

Copies sent by Eurordis, by category

Among the 1861 copies above, 921 were sent by Eurordis, to the following target categories:

Participants to the conference 320

Eurordis members who did not participate to the conference 187

Other Eurordis contacts 414

Total A 921


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Partners’ initiatives (and other organisations)

The remaining 940 copies were sent by associated beneficiaries and partners:

RDD (associated beneficiary, Denmark) 100

Alliance Maladie Rare (associated beneficiary, France) 250

FEDER (associated beneficiary, Spain) 250

ACHSE (German federation of rare disease organisations) 150

ALAN (associated beneficiary, Luxembourg) 25

Agrenska (associated beneficiary, Sweden) 50

Orphanet (associated beneficiary, France and other states) 50

Eurocat (associated beneficiary, UK and other states) 45

SUKL (Czech Republic Drug Control Agency) 20

Total B 940

Eurordis initiatives

In addition to participants and contacts, Eurordis sent printed copies to the following organisations:

Numbers of printed reports sent, by institution/organisation

Members of the European Parliaments 732

European Commission 100

Various 100

Total C 932

Stock for further dissemination D 207

Total A+B+C+D 3000

Additional deliverables

n addition to the planned deliverables of the Paracelsus project, the partners decided to produce one additional document and to fully participate to the workshop organised by DG Research on the research programmes for rare diseases. DG Research welcomed the proposal to hold this workshop in April

so that it could be reported back during the conference, to a larger audience. Indeed, the project had created a dynamic, a momentum in the rare disease community that could be optimised to communicate on all aspects of rare diseases.

Therefore, two additional deliverables are included in this report:

- “Rare Diseases: understanding this Public Health Priority”

- The report of DG Research Workshop, April 12-13, 2005 and Eurordis position paper on FP7.

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R ARE D I S E A SE S : UNDER S T AND ING TH I S P UB L I C H EA LTH P R I OR I T Y

ven though the term “rare diseases” is largely used by policy makers, media, health care professionals and the public opinion, the rare disease community felt the need to better describe what they are, what they represent for the people affected, and for the society.

A first version of the document was presented at the conference. Participants and speakers were invited to send their comments, and a public consultation phase ensured the document reflects well the opinion of various stakeholders.

Methodology

Background documents served as a basis for its elaboration, particularly patient testimonies that were collected during the Awareness week, PARD III project supported by EC. The Eurordis secretariat also used patient organisation newsletters, the WHO report on essential medicines, the European Regulation on Orphan Medicinal Products, and other position papers published by Eurordis.

An internal validation of the first draft was performed by the EPAC, European Policy Affairs Committee at Eurordis in May-June 2005.

It was then disseminated at the European Conference on Rare Diseases.

The public consultation was open until September 30th, 2005. Some 30 comments received were analysed and integrated in the document.

Validation

The final version was validated by the Board of Directors in December 2005. It was then translated from English to German and Spanish. Translation to Italian and French are ongoing.

Dissemination

The dissemination to European and National health policy makers is ongoing. The document is available on Eurordis web site, and it has been widely disseminated via Eurordis electronic newsletter.

See annex 13 for the full document.

DG RE SE ARCH WORK SHOP , A P R I L 2 0 0 5

he need to exchange views on previous research programmes on rare diseases by DG Research was common to the Commission and to leaders of projects that were conducted under FP5 and FP6. The main objective was to draw lessons from FP5 and FP6 to prepare the next

framework programme, FP7.

In order to feedback the conference with main conclusions and proposals for FP7, a workshop was organised by the DG Research ahead of the Luxembourg conference, on April 12th – 13th in Brussels.

Prof. Ketty Schwartz and Dr. Catherine Berens prepared a report that was disseminated at the conference, and an oral presentation by Ketty Schwartz served as a basis for discussion (session 8).

See annex 14 for the report and the list of participants.

See annex 15 for Eurordis Position Paper on FP7.

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Indicators and evaluation

Output indicators (§1.5 of annex 1 of the contract)

s defined in the project application, output indicators were:

- the number of attendees - the number of member states from which attendees originated

- the number of main EU media to cover the event - the number of printed or electronic reports sent or downloaded by email - the number of users visiting the web cast

AT TENDANCE

Even though participants originated from 24 states, 70% originated from France, Spain, Germany, United Kingdom, Italy and Luxembourg, as shown in Figure 4 below. The large delegation from France can be explained by four factors: geographic proximity, location of Eurordis headquarters in Paris, greater involvement of all stakeholders in France compared to other neighbouring countries, e.g the French National Plan on Rare Diseases, and the success of the previous conference organised in Paris-Evry 2003.

A

Output indicators title (e.g. Distribution of leaflets)

Target value to achieve (e.g. 200 copies)

Value achieved

Attendance ∼ 250 to 300 attendees 320

Member States involved ~ 15 to 20 MS 24

Media coverage 15 main EU media 4 main EU media

15 other media

Dissemination of the Conference Proceedings

~ 1500 printed copies, electronic mass mailing (500 additional recipients), and web sites

3000 printed copies

Conference web cast 500 connections 126

Table 1: output indicators

The attendance


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Figure 4: Participants to ECRD2005 by occupation

Figure 5: participants by state of residence

Among patient representatives, all pathologies were represented as shown in figure 4 below, lead by diseases of nervous system (34.7%), metabolic diseases (15.3%) and skin diseases (14.2%).


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Figure 6: Clinical manifestations of the disease represented by patient organisations

Activities indicators (§2.4 annex 1 of the contract)

See also the project management page 9.

Activities indicators Target value to achieve Value achieved

Steering committee conference calls

5 2

Steering committee face to face meetings

2 2

Programme committee conference calls

4 2

Programme committee face to face meetings

2 3

Preliminary programme 3000 copies by mail and electronic mass mailing

3000 copies by mail and electronic mass mailing

Call for posters 3000 copies sent by mail and electronic mass mailing

3000 copies included in the preliminary programme

Press Package (press release and documents)

1000 copies 20 packages prepared for the press conference

Several hundreds press kit send via electronic dissemination and

information by telephone to medias


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Attendees Evaluation Questionnaire

300 copies 300 distributed, 46 collected

Conference web site 300 registrations 280 on line registrations, 40 on site registrations, total 320

Conference web cast 500 connections 141 distinct visitors, each one viewing the webcast several

times

Languages Documents available in 5 languages

Documents available in 5 languages, except the Report (4

languages)

Interpretation Sessions in 5 languages total: English and 4 languages with interpretation (2 supported by the Paracelsus project, 2 by the Luxembourg government)

Sessions in 5 languages total: English and 4 languages with interpretation (to French, German, Spanish and Polish).

Evaluation by the partners of the project, the programme

committee and participants

R EM INDER OF TH E CONTEXT OF THE E C RD 2 0 0 5 C ONFERENCE

urordis has organised the first European Conference on Rare Diseases in 2001, in Copenhagen, instigated by Rare Disorders Denmark and the Centre for Information on Rare Diseases8 (CSH): 230 participants. A second European Conference on Rare Diseases was organised in 2003,

in Paris-Evry, in partnership between Eurordis, Alliance Maladies Rares and Association Française contre les Myopathies AFM-Téléthon, with 500 attendees.

The concept of a high level European Conference on Rare Diseases held under the European Presidency and supported by the European Commission was first mentioned at the Morbidity and Mortality Meeting, DG Health and Consumer Protection, in January 2004. In April 2004, Eurordis responded to the call for proposals with the SPC2004117 project (Paracelsus), to organise this event. The contract with the commission was signed on April 19th, 2005, and to facilitate the organisation of the European Conference on Rare Diseases ECRD2005 in Luxembourg, the Commission authorised Eurordis to engage expenses starting November 1st, 2004.

This is important to have in mind: active preparation of the conference started on November 1st, 2004, that was just 7 months and 19 days prior to the vent.

OP IN ION S F ROM MEMBER S O F THE P ROGRAMME COMM I T TEE

8 Ministry of Social Affairs, Denmark

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he opinion of members of the programme committee and associated partners was discussed during the November 22nd, 2005, face to face meeting in Paris.

Overall, members of the programme committee were fully satisfied by the conference: all objectives were met, quality of presentation was satisfying, and participants were pleased.

Individual comments were:

- The chair person • Very happy in general • The programme was too ambitious, with too many items • Not enough time for discussion • Most sessions were a rush to the next speaker • Excellent mix up of the communities • More in depth sessions are desired • Future programme should be more focused on specific issues, the

need for a general conference is less important. • Overall cost per attendee was high. A budget of 416 000 euros for

320 attendees represents 1300 euros per person.

Response from the organiser on this last remark: the number

of delegates was limited due to the size of the Chamber of

Commerce conference room. The participation could have

easily reached of 450 or even 550, given the numbers of

registrations that could not be accepted once the deadline

was passed. Important resources were allocated to

communication (both media contact, and quality report of

the conference printed in 3000 copies, translated to French,

Spanish and German) to ensure proper dissemination of the

content. Furthermore, the development of useful tools for

ECRD2005 (e.g. a web site that corresponds to European

accessibility norms) will be adapted to future European

Conferences at a much lower cost.

- Spain • Spanish participants were satisfied • Time allocated for presentations was too short (10 min) • Quality of interpretation was sometimes questionable • Local event organiser was sometimes problematic • Success in the attendance to the conference • The programme could have been more focused on a certain group

of diseases: general transversal themes are important, but participants would appreciate to address specific issues about their diseases.

• Accessibility to the conference site should be improved, and presenters should be requested to use larger capitals on their slides.

- Germany

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• From the evaluation forms, the completeness of the criticism can be noticed, as everything that could be criticised was criticised.

• About future directions: the programme committee should define/propose expected outcomes in a more visible manner.

• Chances were not fully explored. An important aspect like “How do the different countries compare?” was not systematically addressed by speakers.

• Some diseases are always mentioned but many diseases were not even defined. This left the impression that common ones cover most of the audience, although this was not exactly true.

• Scientists are working on a large scale programme to sequence the entire genome, focusing on RD. The goal is to link genotype and phenotype. The only bottleneck is the availability of families to provide the clinical data and the genes. A call to all families is needed, “Yes you can do something”.

• High throughput sequencing now permits to detect relations between genes and phenotype. This could be a theme for a future conference.

- Luxembourg • As presentations were long, there was not enough time for proper

discussions. • Workshops to express experiences and comparative data would

be helpful. • Positive feedback from the participants • A space for Last minute communications could be added to the

programme.

- Sweden • The programme committee should dedicate more time and energy

to brief the moderators in order to have more interactive sessions. Professional moderators should be hired, particularly for the parallel workshops.

• The conference should come with clear statements / main keynotes (5 to 10 statements)

• The atmosphere was good, attendees could meet with friends, good overall feeling

• Ballet was magnificent • The next conference should start with such an opening ceremony • People who worked hard should be awarded • Website was updated too late compared to the proximity of the

event • Cost-effectiveness of projects can be questioned: for example was

the development of a specific website useful?

Response from the organiser: unfortunately the local event

organiser could not provide us with a web site that would

have satisfied all our requirements (five languages,

accessible, registration and secured on-line payment).

Therefore, it was absolutely necessary to develop a new web

site. This tool is an investment that will be adapted to future

European Conferences.


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- France (comments from members of the board of Alliance Maladies Rares who participated to the conference)

• Yes, the conference successfully reinforced the rare disease community. The atmosphere was truly friendly.

• Positive opinion on the organisation • Some of the speakers were too fast, or too long or did not really

prepare their presentation. Some just linked their presentation to the topic, presented their action more than the subjects.

• More workshops would be helpful. But can we have workshop with 20 English speaking persons?

• Multi-language interpreters from EC could maybe replace the numbers of interpreters needed.

• The next conference should avoid the feeling of reiteration from one conference to the next. Two tracks could be proposed, one for those who are aware of what is going on in rare diseases, one for those who are less aware.

• To train the speakers would help tremendously.

- Czech Republic • Workshops are really needed to address specific issues in depth.

- Eurordis

The conference was a success regarding its initial goals: 1) Feeling that RD community exists across rare diseases and across

member states, good feeling among people. 2) Rare diseases are on the political agenda. 3) The conference was the high point of a series of meetings that

preceded it, e.g. the DG Research workshop in April. 4) The media coverage was relatively poor. 5) The quality was good but the programme addressed too many

different topics. 6) Materials (documents, position papers) could be used in a more

efficient way. Issuing statements prior to the conference is a good idea, but would require action prior to the conference.

7) Participants: Copenhagen 2001: 230, Evry 2003: 530, Luxembourg 2005: 320. 500 participants was an achievable goal despite travel costs. Too many French people.

8) How to promote the conference? 9) Lack of representatives from industry. Careful choice of the date

that should not interact with other main conference in the field. 10) Moderation: professionals can help to make the conference more

interactive

F E EDBACK F ROM P AR T I C I P ANT S ON THE C ONTENT AND THE O RGAN I S A T I ON

valuation forms were distributed to participants. However, too few questionnaires were sent back (50 / 320 participants) for a quantitative analysis. Demographic characteristics of the 50 respondents were significantly different from the overall participants, thus the sample was

not representative. For this reason, only qualitative comments were considered. They relate to the content of the conference and to its organisation:

� Content and programme � Speakers, chair persons and discussants

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� Attendance � Organisation � Centre of Conference

See annex 16 for all comments received. Only the most significant are commented in this report. Content

1. Too many transversal topics, not enough information on specific rare diseases

2. Always the same rare diseases mentioned

At ECRD2005, general and transversal themes common to all rare diseases were chosen. For the next European Conference, the programme will consider sessions and presentations focusing on specific diseases, giving the floor to presentations by patients or health care professionals on specific problems met.

Some participants had the impression that always the same diseases were mentioned to illustrate the case, whereas in fact hundred and twenty nine distinct diseases were mentioned by speakers or posters.

3. Lack of comparative information on treatments and cares costs between member states.

A comprehensive comparison of practices and national policies for rare diseases was presented at the conference. However comparative information on treatment and care costs was not available. This will be proposed to the programme committee of the next European Conference.

4. Interest of the poster session.

The poster session was scheduled during lunch time and coffee breaks. This was not the optimum format to ensure enough time for participants to discuss the posters with their authors. A dedicated poster session will be part of ECRD2007.

5. Conference rhythm too fast.

The programme was ambitious, with a total of 53 speakers or discussants. In addition, some chair persons also took the floor and this was most welcome. This led to a succession of many speeches to the detriment of time allocated for discussions, and short inter-session periods.

6. Part of the programme was a repetition of Paris-Evry 2003 conference, giving the impression that not much progress was made since 2003.

This comment mostly originated from attendees who also participated to the European Conference in Paris-Evry in 2003. This is partly true, as the programme committee invited some speakers who had talked to previous conferences.


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7. Impact of rare diseases on health economy (health economic implications of rare diseases, pricing and reimbursement of orphan medicines in Europe).

Health economics was not part of the programme, this proposal will be put forward to the programme committee of the next conference.

8. Plan a joint session with EPPOSI 9. Allow reference centres to present their function in detail. 10. More time for industry to express itself on research.

Comments 8, 9 ands 10 will also be presented to the programme committee of the next conference.

Speakers / chairpersons 11. Chairmen did not respect allowed time to speakers to the detriment of

discussions. 12. Choose chairmen not because of their notoriety or their expertise but

because of their ability to moderate a discussion, or train them.

A better co-ordination is desired between the organisers and the chair persons to ensure respect of timing and time for discussions.

Attendance 13. Allow public questions in all interpreted languages

For budget reasons, it was not possible to interpret languages in both ways. Attendees who wanted to raise questions were invited to speak in English, or to ask colleagues to relay their questions. However this was a difficulty for many participants and this issue should be considered for future conferences.

14. Lack of Member States’ representatives. 15. Lack of new member states representatives

Despite our efforts to invite more representatives from member states, too few representatives attended the conference. The Commission also wrote to national experts and health ministries. This emphasises the need to better co-ordinate with national patient organisations to ensure larger participation of national representatives.

Media campaign

P RE S S I NV I TA T I ON S AND P R E S S K I T

olicy Action, media contact and planning was contracted to develop a media planning (annex 6) and to liaise with journalists prior to, during and after the conference. Journalists were contacted via an announcement press release and telephone calls. European and international press was

targeted. However, international press based in Brussels did not pay as much attention to ECRD2005 as desired, as the European Conference on Rare Diseases was simultaneous to an EU Agriculture

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Council, and furthermore another health related event was organised on June 21st that conflicted with the conference.

P RE S S C ONFER ENCE

A press conference was held on June 21st, at the Chamber of Commerce: Mars di Bartolomeo, Ministry of Health of the Luxembourg Government, Fernand Sauer, Director for Public Health at DG Sanco, Terkel Andersen, President of Eurordis, and Christel Nourissier, co-chair of the Programme Committee expressed their views and commented on the main information highlighted during the morning session (delays in diagnosis, European policy for rare diseases).

See annexes 8 to 10 for the press release and the press kit.

COVERAGE

Overall, the media coverage of the Conference was limited, with sixteen journalists present at the press conference and a total of twenty four articles were published (however this review was not an exhaustive review of all published articles in Europe). Radio cast and television news were not included in our review, although Policy Action reported interesting radio shows on the conference in at least two member states (Ireland and France).

Press articles (general press)

– Germany: 14 – Luxembourg: 4

– Belgium: 2 – Ireland: 1

– Austria: 2 – Denmark: 1

– Total: 24

ECRD 2005 - Journalists that have shown an active interest:

By attending the press conference

Media Country Name

Agence Europe Europe Olivier Jehin Viva Magazine France Brigitte Bégoe Brainstorm Germany Nancy Poser Deutsche Presse Agentur (dpa) Germany Birgit Reichert La Voix du Luxembourg Luxembourg Anne-Sophie Rihm Le Jeudi Luxembourg Eric Netgen Letzeburger Journal Luxembourg Colette Mart Luxembourg press service Luxembourg Ricky Wong Luxemburger Wort Luxembourg Nathalie Rovatti Radio Latina Luxembourg Radio RTL Luxembourg Nathalie Majeres Tageblatt Luxembourg Télévision TTV Luxembourg Sylvie Martin


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By requesting background information or interviews

Media Country Name

APA – Austria Press Agency Austria Thomas Schmidt De Standaard Belgium Kim De Rijck De Tijd Belgium David Adriaen Grenz Echo Belgium Gerard Cremer Le Soir Belgium Jacques Poncin Euractiv Europe Outi Alapekkala European Voice Europe Aoife White Biotech Info France Helene Guyot Tribune Santé France Cedrine Barruyer Financial Times Deutschland Germany Wolfgang Proissl Frankfurter Allgemeine Zeitung Germany Joachim Müller Jung Paul McGinn Ireland EuroTimes Ireland on Sunday Ireland Jim Clarke Irish Examiner Ireland Catherine Shanahan Medicine Weekly Ireland Dara Gantly The Irish Times Ireland Eithne Donnellan ANSA Italy Francesco Marabotto Letzebuerger Journal Luxembourg Claude Karger Tageblatt Luxembourg Robert Schneider Agencia EFE Spain Marta Borras El Mundo Spain Isabel Perancho British Medical Journal UK Rory Watson Reuters UK Aine Gallagher The Times UK Anthony Browne

See annex 11 for the complete list of published articles.

Assessment of achievements

How general objectives were met

his conference served as a spearhead for the involvement of all interested parties and a broad dissemination of information and awareness on rare diseases policy and practices in the areas of research, care and public health. The conference clearly showed the community specific and unique

added value to address rare diseases from a European perspective.

How specific objectives were met

he conference focused on difficulties people living with rare diseases are facing daily, as well as difficulties health care professionals have in providing adequate care, and researchers in conducting fundamental or clinical development research programmes. Beyond difficulties, the

conference successfully identified possible solutions and helped to develop a future consensus on policy action.

It presented the results of the former Community Programme on Rare Diseases as well as the work underway in the 2003-2008 European Public Health Programme. It outlined the projects funded by the European Commission in the field of rare diseases under the Research Framework Programmes and highlighted activities undertaken by the European Medicines Agency following the adoption

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of the EU regulation on orphan drugs. Finally, it prepared the ground for future European policy measures for rare diseases.

A Programme Committee was composed of members of the DG Health Rare Disease Task Force and relevant experts appointed by the steering committee. The Programme Committee was composed of 16 members: 8 patients’ representatives from 6 member states, and 8 health professionals from 8 member states.

The exchange of information between leaders of former and current projects funded by DG Health and Consumer Protection and DG Research (scientists and patient organisations) was encouraged by the Programme Committee of the European Conference on Rare Diseases. The results of these EU funded projects and the work of the EMEA was disseminated to all stakeholders during the two-day Conference. The conference also provided information about existing networks: all Member States, patient organisations and health professionals were provided with information about existing networks and channels of information - such channels include ORPHANET (a database on rare diseases), the EURORDIS web portal, the EMEA web site, EUROCAT, national rare disease alliances, disease specific existing networks and so forth.

The project involved key stakeholders and representatives from the European Commission, the European Medicines Evaluation Agency (EMEA), the members of the Task Force on Rare Diseases including Member States representatives, public health agencies and patient organisations as well as health professionals, researchers and industry representatives. Members of the European Parliament public health committee were closely informed of the outcome of key steps of the project.

Summary table of deliverables

Deliverable No

Deliverable title Delivery

date Deliverable dissemination status

D1.1 Appointment of management structure and steering committee

November 2004 To partners and staff involved by decision of the board of Eurordis

D1.2 Planning and status reports on projects November 2004 and throughout the project

To partners and staff involved. Conference calls, letters, emails and face top face meetings.

D1.3 Steering committee meetings (2) and conference calls (5) See table D 1.3 page 9

To partners and staff involved.

D1.4 Progress report and financial reports to the European Commission and co-funders

Management decision not to produce interim report as the project duration was short (13 months) and first payment occurred at month 7.

D1.5 Final project report to the European Commission and co-funders

February, 27th 2006

To the European Commission and co-funders

D2.1 Conference preliminary programme March 2005 (M5) To patient Organisations, Health Professionals, Member States, Academia and other potential attendees by mail (3436) and emails, web sites (Conference web site, Eurordis web site, partners’ web sites, European Commission web site, Luxembourg ministry of health web site)


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D2.2 European Conference on Rare Disease June 21st – 22nd, 2005. M8

320 participants: Patient Organisations, Health Professionals, Health Authorities, European Commission, Members States

D2.3 Conference materials: Conference programme, list of attendees, epidemiological data

June 21st -22nd Distributed at the Conference to participants in the delegate’s bag

D2.4 Poster session June 21st – 22nd 70 posters selected and presented. Posted on the conference web site on September 28th, 2005 (abstracts and posters).

D2.5 Evaluation: questionnaire and analysis June 21st – 22nd Distributed at the Conference to participants. Analysis revealed that too few questionnaires were received (46) and were not representative of the overall participants. Thus, a qualitative approach was chosen: see annex 16.

D2.6 Press materials: press kit June 21st – 22nd Press announcement June 6th, 2005.

Press conference and press release June 21st, 2005.

D2.7 Press Book September 2005. See annex 11

D2.8 Conference proceedings November 2005 M12.

Report of the conference: Electronic version posted in 4 languages on the conference web site. Includes all oral presentations and some but not all posters.

D3.1 A study on Epidemiological Surveillance of Rare Diseases June 21st – 22nd To participants in the delegate’s bag, in the Conference Report. Submitted for Scientific publication. See annex 12.

D4.1 Press conference June 21st With Mars di Bartolomeo, Ministry of health of Luxembourg, Fernand Sauer, European Commission, Terkel Andersen and Christel Nourissier, Eurordis

D4.2 Speakers’ presentations on line on website July 15th, 2005 (M9) Web cast of oral presentations except session 6 and session 8.

D4.3 Mailing of Conference proceedings November 2005 and after.

3000 printed copies sent to participants of the conference, partners and patients’ organisations, European Commission, to scientists and Orphanet/Eurocat contacts, to the Members of the European Parliament.

Additional DG Research workshop April 12th – 13th , 2005

See annex 14 and annex 15.

Additional Rare Diseases: understanding this Public Health Priority June 21st for the draft. Final version December 2005.

To the rare disease community through members, partners, national alliances of rare diseases… See annex 13.


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Budget

Overall expenses The Consolidated financial Statement is enclosed.

Overall, Eurordis is in line with the budget as amended (amendment to grand agreement n°2004117 (790839), October 10th, 2005.

The actual expenditures amount to 398 774.01 €, slightly less than budgeted (416 594.75 €), representing a difference of -4.3%.

Expenses per heading

Personnel costs

he cost incurred are of 183 769.64 €, to be compared to 166 371.59 € as budgeted (+10.46%). The difference can be explained by the following reasons:

- Eurordis staff dedicated more time for the registration of delegates, the travel and accommodations of speakers and delegates, collection of expense sheets than previously estimated. This was largely due to the local event organiser that under estimated the work load.

- Eurordis staff dedicated more time on the report of the conference than initially planned. In order to report in greater details and with more information, it was decided to transcript all oral presentations from the recorded sessions, and many of the poster sessions. Thus, the report is larger than it was planned to be (120 A4 pages instead of 60).

- Eurordis staff dedicated more time on the dissemination of the report, as twice as many copies were printed (3000 instead of 1500).

Travel, accommodation and subsistence

he cost incurred in this chapter are of 38 536.66 €, to be compared to 53 302.71 € as budgeted (-27.7%). The difference can be explained by the following reasons:

- Eurordis staff purchased air flight tickets at the lowest possible rates in order to do the best possible use of public and private project funding.

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- Speakers, discussants and chair persons who could send their expense sheets for reimbursement often decided not to do so. Instead they presented their expenses to their organisations, a very elegant gesture.

- Less face to face Programme Committee and Steering Committee meetings were necessary, as members communicated via email or telephone more frequently than expected, still delivering the expected quality work.

Subcontracting

he cost incurred in this chapter are of 121 247.41 €, to be compared to 145 245.17 € as budgeted (-16.5%). The difference can be explained by the following reasons:

- On-site catering expenses were budgeted for 18 356.00 €, based on quotes submitted by the Chamber of Commerce. The bill was paid directly by the Luxembourg Presidency. The Government of Luxembourg never sent the bill to the main beneficiary. The main beneficiary contacted the Government of Luxembourg on several occasions, including a registered letter, to invite the financial services to send us the bill for reimbursement prior to November 30th, 2005. The Luxembourg Government should be recognised for this additional support.

- Interpretation to Polish and Spanish: an agreement with the Government of Luxembourg was obtained according to which the Government of Luxembourg would pay the services to the European Interpretation Services and send us the bill (for 6 472.75 €). As for the catering, the Government of Luxembourg did not send the bill prior to November 30th, 2005.

Other costs

he cost incurred in this chapter are of 29 132.27 €, to be compared to 24 421.42.17 € as budgeted (+19.3%). The difference can be explained by the following reasons:

- The decision to enlarge the dissemination of the report to all Members of the European Parliament and a large number of EU officials required the temporary services of a consultant, Flaminia Macchia.

- The same consultant partly participated to the writing of the report

External audit report The accountancy was checked by BKR SEFITEC, represented by Mr. Thierry Legrand, Eurordis chartered accountant.

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Conclusion and plans for

ECRD2007

The Paracelsus project was successfully conducted; the European Conference on Rare Diseases, Luxembourg, June 21st – 22nd, 2005 was a great success and an important step towards a European Policy for Rare Diseases.

The format of the conference was excellent and will certainly serve as a model for the future: support of the European Commission, support of the European Union Presidency, support of patient organisations, particularly the Association Française contre les Myopathies AFM-Téléthon.

Together, The European Commission, the Government of a Member State, patient organisations and health care professionals contributed to its success.

The experience gained encourages the organisers to reiterate this event in 2007. Contacts have already been made in Portugal with Infarmed, the Portuguese Health Agency, and the Ministry oh Health, in the context of the next to come EU Presidency by this member state, and other potential partners. For this purpose, the next European Conference on Rare Diseases, ECRD2007 in Lisbon, is part of the project RAPSODY, Rare Patient Solidarity, DG Sanco Public Health Work Plan 2005 that received a positive response in February 2006.

Early and close collaboration between Eurordis, the European Commission DG Sanco, the Task Force on Rare Diseases, the Ministry of Health of Portugal and Infarmed in conjunction with DG Research and DG Enterprise and EMEA will be a key success factor.

The main difficulties in organising this conference were time constrains. Our experience indicates that a minimum of eighteen-month preparation are necessary. For ECRD2007, funding should be secured on time from each partner and sponsor, particularly from the European Presidency.

The intensive and quality work provided by volunteers, both patient organisation representatives and health professionals, and by the staff of patient organisations has to be recognised as another key success factor of ECRD2005 and it will be a crucial component for the successful organisation of ECRD2007 in Lisbon.

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Annexes

Annex 1: D2.8 Report of the conference

Please refer to printed report (joined).

Other languages are available:

- French

- German

- Spanish

They can be downloaded from the Conference web site: www.rare-luxembourg2005.org


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Annex 2: D2.1 Conference announcement


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Annex 3: Programme of the conference


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Annex 4: List of attendees

Participants to ECRD2005 (not including 60 participants who registered on site)

Moises Abascal FEDER Spain Elvira Agazio National Centr Rare Diseases-Istituto Superiore di Sanità Italy Ala'a Al Kerwi CRP Santé / SETT Luxembourg Violetta Anastasiou Ministry of Health Cyrpus Vogels Annick University Hospital Leuven Belgium Françoise Antonini Alliance Maladies Rares France Ségolène Aymé Orphanet - INSERM SC11 France Paola Baiardi Consorzio per le Valutazioni Biologiche e Farmacologiche Italy Simone Baldovino Centro Multidisciplinare Ricerche Immunopatologia Italy Andrea Bartuli Bambino Gesu Children's Hospital Italy Simona Bellagambi Representative Italy Elvira Bel-Prieto Profesora Titular Universidad Spain Catherine Berens DG Research Belgium Anna Berglöf Karolinskainstitutet Sweden Valerie Bernard Association de Behcet France Jacques Bernard Association Francois AUPETIT France Mads Bjerke Rikshospitalet University Hospital Norway Brigitte Bjerkely Centre for Rare Disorders Norway Christina Black Eurordis France Juliette Bloch INVS France Agnès Bloch-Zupan Associate professor France Jean-Pierre Blois Association Strümpell Lorrain France Gerlinde Bode ICCOPO + Deutscher KinderKrebsstiffung Germany Odile Boespflug-Tanguy INSERM U384 France Francesc Bonet Researcher Spain Serge Braun AFM France Robert Bretz A Heart for Cancer sick Children ASBL Luxembourg Mette Siri Brønmo Head of Dpt Communicat and docu Norway Marie-Marthe Bruck-Clees Een Häerz fir Kriibskrank Kanner Luxembourg Frank Brunsmann University Eye Clinic Germany Stephane Buron Alliance Maladies Rares France Maria-Rosa Caballin Universitat Autonoma de Barcelona Spain Milan Cabrnoch European Parliament Czech Republic Laure Camborieux Présidente France Mélanie Carr EMEA United

Kingdom Marie-Hélène Cecchin Association de Behcet France Sandrine Charrières LFB France Ester Chesa Assocacio Afectats Siringohielia Spain Silvano Ciancamerla Family of Prader Willi Syndrom Italy Christian Clauss Baxter France Silvia Ines Clement GEISER Fundation Argentina Camille Cochet Faurisson Alliance Maladie Rare France Tanya Collin-Histed NPDG (UK) United

Kingdom Catherine Comlar Association Huntington France France Maria Elena Congiu Minisitry of Health Italy Mireille CONNAUGHTON-

KOURATORAS AFM - Groupe FSH France

Piera Costanza Italy Vanessa Coudre Bionest Partners France Carole Crétin Ministère de la santé France BERNARD CURNIER AFM - Groupe FSH France Rutger Daems Chiron Vaccines The

Netherlands Loredana D'Amato Sizonenko Orphanet Switzerland Switzerland Juliette Daniel DRASS des Pays de la Loire France John Dart DEBRA Europe United

Kingdom Carine De Beaufort CHL Luxembourg Marie-Christine

De la Morlais ASTB France

Thomas Dehmer Resident Germany


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Claudia Delgado FEDER Spain Vincent Des Portes Child neurologist France Susana Diaz ADAC Spain Jose Luis Diaz ADAC Spain Helen Dolk University of Ulster Ireland Jean Donadieu Institut de veille sanitaire France Christophe Duguet AFM France Corinne Duguet Pharmion France Patrick Dupuy Association de l'Ostéogenèse Imparfaite France Catarina Edfjall Actelion Switzerland Arne Eiwen European Chromosom 11q Network Germany Jean Elie Vaincre la Mucoviscidose France Carolin Engelhorn Kindness for Kids Foundation Germany Maria Elena Escalante Asociacion Espanola Sindrome Prader Willi Spain Antonia Escudero Spain Pauline Evers VSOP (Dutch Genetic Patient Alliance) The

Netherlands Paola Facchin Chief of the register for rare disorders Veneto region (Italy) Italy Anders Fasth Göteborg University Sweden François Faurisson Eurordis France Ilse Feenstra ECARUCA The

Netherlands Laura Fernandez Direccio General de Salut Publica Spain Gerhard Feurle DRK Krankenhaus Neuwied Germany Judith Fischer Centre National de Génotypage France Alexandra Fourcade Minsitry of Health France Louise Fox Burson Marsteller Belgium Nathalie Franckhauser Association française du Syndrome d'Ondine France Anja Frankenberger Kindness for Kids Foundation Germany Jostein Fredriksen Center for Rare Diagnoses - Rikshospitalet Norway Françoise Freyburger Association VML France Wasiu Ganiyu University of Ho Chi Minh Vietnam Maria Garcia Bazaga Licenciada en antropologia Spain Ann Gardulf The International Nursing Group for Immunodeficiencies (INGID) Sweden Robert Geursen Geursen-Consulting Germany Ingrid Gewinner HAE-Vereinigung e.V. Germany William Gibon Eurordis France Marie Gliksohn GENESPOIR France Sally Goodman Orphanet-INSERM SC11 France Dominique Gouriou Association française du Syndrome d'Ondine France Holm Graessner University of Tübingen/Department of Medical Genetics Germany Norbert Graf University Hospital of the Saarland Germany Vanessa Grandjean Centre Hospitalier de Luxembourg Luxembourg Lesley Greene CLIMB National Center for Metabolic Diseases United

Kingdom Kjersti Grindal Head of Dpt Research and Devpt Norway Torben Gronnebaek Rare Disorders Denmark Denmark Ann Hale Executive director United

Kingdom André Hanauer I.G.B.M.C. France Synne Heivang Centre for Rare Disorders (SSSS) Norway Robert Hejdenberg Agrenska Sweden Edeltraud Hendrich Polio-Allianz e.V. Germany Gerd Ulrich Heuer Bundesselbsthilfevereinigung Multiple kartilaginäre Exostosen

(Osteochondrome) Germany

Marie-Claude Hittinger HAS - Haute Autorite de Sante France Peter Hof Selbsthilfegruppe für PXE-Erkrankte Deutschlands 1999 Germany Jolan Holl For our Sight Foundation Hungary Anthony Holland University of Cambridge United

Kingdom Francois Houyez Eurordis France Daniele Hugues APPT France Jolanda Huizer Programme Officer the netherlands Carina Hvalstedt Agrenska Sweden Jackie Imrie Niemann-Pick Disease Group United

Kingdom Anne Kristin Ingvaldsen National Center for Epilepsy Norway Osman S. Ipsiroglu Associate professor Canada


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Marianne Jespersen National Board of Health Denmark Edmund Jessop UK Department of Health United

Kingdom Béatrice Jouanne GENESPOIR France Hélène Jullian Etablissement français des Greffes France Philippe Juvin AMSN France Helena Kaarinainen Turku University Hospital Finland Marie-Anne Kaiffer Patiente Vertriedung asbl Luxembourg Olle Kämpe Uppsala University Sweden Veronika Karcagi National Center for Public Health, Dep.of Mol.Genetics and Diagnostics Hungary Karl-Heinz Klingebiel Bundesvernband Kleinwüchsige Menschen und ihre Familien e.V. Germany Josephine Maria

Knox Trimethylaminuria Foundation United Kingdom

Yllka Kodra Istituto Superiore di Sanità Italy Anne Kreiling German National Alliance for Rare Diseases Germany Rebecca Krysthowiak Prader Willi France France Marianna Lambrou Tuberous Sclerosis Association of Greece Greece Josiane Lannel A.F.S.O France Yann Le Cam Eurordis France Jany-Claude Lecureur AFSR France Virginia Alejandra

Llera GEISER Fundation Argentina

Jordi Llinares-Garcia EMEA United Kingdom

Thomas Lönngren EMEA Sweden Erik Loosen Brusselse Huisartsenkring Belgium Jean-Claude Lopez Ligue française contre Neurofibromatoses France Sophie Ludgate BAXTER Belgium Stanislas Lyonnet Université René Descartes Paris 5 France Flaminia Macchia Eurordis Belgium Kroneman Madelon NIVEL The

Netherlands Mirjam Mann German Alliance for Rare Diseases (ACHSE) Germany Mario Margolles Medical Researcher Spain Giraldo Mataramos Junta de Extremadura Spain Nicole Mather Deloitte United

Kingdom Dolores Mayan Cendon Asociacion Nacional Sindromes Ehlers-Danlos e Hiperlaxitud Spain Estrella Mayoral FEDER Spain Sarah Mc Fee Vaincre la Mucoviscidose France Marie-Françoise

Meresse Alliance Maladies Rares France

Monica Merino FEDER Spain Henri Metz COM Luxembourg Hanka Meutgeert Executive director the netherlands Cristina Michelotti A.I.S.Ac.Association for Achondroplasia Italy Prisca Middlemiss Unique-The Rare Chromosome Disorder Support United

Kingdom Pawel Miskiewicz Director General poland Merja Monto AMC Finland Finland Toni Montserrat DG HEalth Luxembourg Bruce Morland Birmingham Children'a Hospital United

Kingdom Netty Müller-Grosse Interessengemeinschaft Ediderolysis Bullosa e.V. DEBRA Germany Anne-Laure Murier Eurordis France Eva Elisabeth Naess Physiotherapist, specialist in paediatric Norway Beata Nagy For our Sight Foundation Hungary Britta Nilsson FRAMBU Norway Christel Nourissier Eurordis France Françoise Nourrit INSERM SC11 - Orphanet France Roy Nystad National University Hospital Norway Christian Ohmann ECRIN Germany Anders Olausen Agrenska Sweden Jennifer Olivarez Patiente Vertriedung asbl Luxembourg José Luis Oliveira University of Aveiro Portugal Miguel Oliveira da Silva University of Lisbon Portugal Manuel Palacin University of Barcelona Spain Yolanda Angelica

Palomo Castano Asociacion de Eserosis Tuberosa Spain


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Xavier Paoli Bionest Partners France Annick Perroux A.A.L. - Syndrome d'Aicardi France Bianca Piantanida-Pizzera IPOPI-Intern.Patients Org.for Primary Immunodeficiencies Italy Roger Picard Fondation Huntington Espoir France Lilo Piguet ASRIM Association de la Switzerland Romande et Italynne contre les

Myopathies Switzerland

Manuel Posada Instituto de Salud Carlos III Spain Ewa Pronicka Head of Division of Metabolic Disease poland JULIAN MAURO

RAMOS ACEITERO LICENCIADO EN MEDICINA Spain

Severine Rastoul Maladies Rare Info Service France Mario Reget BOKS Belgium Patrice Regnier Eurordis France Marianne Rivière Association française Lupus et autres Maladies France Anne-Toni Rodgers Baxter Belgium Giovanni Romeo European Genetics Foundation Italy Elettra Ronchi OECD France Hans Hilgers Ropers Max Planck Institute for Molecular Genetics Germany Claire Roussel GIS-Institut des Maladies Rares France Fernando Royo Genzyme Spain Spain Maria Belen Ruano Diaz Asociacion Espanola del Sindrome de Joubert Spain Stefanov Rumen Information Centre for Rare Diseases and Orphan Drugs bulgaria Nicolino Ruperto IRCCS Gaslini Italy John Ryan DG Health Luxembourg Agnès Saint Raymond EMEA United

Kingdom Safaa Saker-Delye GENETHON France Paolo Salerno National Centre Rare Diseases - Istituto Superiore di Sanita Italy Teija Salokorpi MLL The Foundation for the Rehabilitation of Chidren Finland Jacinto Sanchez Casas Federacion Espanola Enfermerdades Raras Spain Rosa Sanchez de Vega FEDER Spain Maria-José Sanchez Martinez Federacion Espanola Enfermedades Raras Spain Maria-José Sanchez-Pérez Andalusian School of Public Health Spain Janos Sandor Intitute of Health Hungary Balthazar Schaap ADCA The

Netherlands Lucia Schauf HAE Vereinigung e.V. Germany Arrigo Schieppati Mario Negri Institute Italy Reinhold E. Schmidt Medizinische Hochschule Hannover Germany Joerg Schmidtke Department Human Genetics Germany Pascal Schneider Université de Lausanne Dept. Biochemistery Switzerland Lajla Schulz Center for Rare Diagnose - Rikshospitalet Norway Ralph Schuster DLR Projekt Germany Tsveta Schyns European Network for Research on Alternating Hemiplegia austria Beverly Searle Unique-The Rare Chromosome Disorder Support United

Kingdom Frederic Sicard Ministère des Solidarités de la Santé et de la Famille France Ellen Skanke Head of Dpt Networking Norway Anna Söderholm The Queen Silvia Childrens Hospital Sweden Pascal Soularue Partner Chip France Eva Steliarova-Foucher International Agency for Research on Cancer France Marjaana Suosalmi Director Finland Erik Tambuyzer GENZYME CORPORATION Belgium Stuart Tanner University of Sheffield United

Kingdom Domenica Taruscio Istituto Superiore di Sanità Italy Valérie Thibaudeau Orphanet France René Thomas Genzyme SAS France Isabelle Touitou Hopital A de Villeneuve France Sophie Trarieux Centre d'éthique clinique- Hôpital Cochin France Rosa Vaello Roma Spain Lydia Valdès Ministère de la Santé France Donatella Valerio Sessa A.I.S.Ac. Association for Achondroplasia Italy Maria Angeles Valero Jimenez Asociacion Sindromes Ehlres-Danlos e Hiperlaxitud Spain Dominique Valla Hôpital Beaujon AP-HP France Jose Luis Valverde Representative European Parliament, EMEA Management Board Spain Annet Van Betuw Chromosome Help-Station The

Netherlands


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Lex Van der Heijden CMTC The Netherlands

Caroline Van Heesewijk European Chromosome 11q NEtwork The Netherlands

Piet Van Nuffel Court of Justice of the European Communities Luxembourg Alan Vanvossel DG Research Belgium Alvaro Villarroel Unidad de Biofisica Spain Joan Lluis Vives-Corrons ENERCA - Hospital Clinic i Provincial Spain Jean-Marie Vlassembrouck Baxter World Trade SA Belgium Bettina Vogel ALAN Luxembourg Ginette Volf Philippot Lupus France France Rainald Von Gizycki Retina Europe Germany Yolande Wagener Ministry of Health Luxembourg Elisabeth Wallenius The Swedish Association of Rare Disorders Sweden Jolanta Wiêckowska Clinical docum. Assessor / COMP Member poland Jutta Wirtz University of Saarbrücken Germany Elke Wühl University Children's Hospital Germany Maria Casimiro

Zambrano Junta de Extremadura Spain

Cornelia Zeidler Severe Chronic Neutropenia International Registry DCC Europe Germany Jette Ziegler Unique Danmark Denmark


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Annex 5: D2.5 Evaluation questionnaire

EUROPEAN CONFERENCE ON RARE DISEASES

ECRD2005

Time to give your opinion!

Thank you for attending the European Conference on Rare Diseases 2005 in Luxembourg. Some of our best ideas have and will come from you. We have tried to do our best. We would really appreciate your feedback, good or bad, and suggestions. Please take few minutes to give us your opinion; you will help us to do even better.

1- Which country are you from? ______________________________________

2- Who are you? (tick one box for each item) 2a- Age : � < 25 � 25-34 � 35-49 � 50-64 � >65 2b- Sex : � Male � Female 2c- Educational level : � Secondary � University entrance � 2 or 3 years University � Masters � PHD / + 2d- Level of English : � Mother tongue � Fluent � Good � Average � Poor 3- In what capacity did you attend the conference? (tick at least one box) � Patient group representative; Specify: � Patient � Relative � Volunteer � Staff � Scientist / Clinical researcher / Academic � Doctor / Healthcare professional � Social worker / Support or information services � Health industry � Public administration / Regulatory / Health services � Other, specify: ____________________ 4- How did you hear about the ECRD 2005 ? � Through the Conference brochure mailing � On the Web / on an Internet site, specify________________________ � Through Agenska � Through ALAN � Through Alliance Maladies Rares � Through EUROCAT � Through EURORDIS � Through FEDER � Through Orphanet � Through SUKL (Czech Drug Control Agency) � Through AFM/Théléthon � Through the European Comission � Through colleagues � Other source, specify_____________________ 5- What attracted you to ECRD 2005? (tick at least one box) � The title / the topics / the content � The conference speakers � The reputation (of the Conference, of the partners, of the supporters) � The opportunity to meet colleagues � The opportunity for networking � The dates of the Conference � The logistics/organisation � The two-day format � The choice of city / the venue

6- What is your overall assessment of the Conference? (tick only one box) � Excellent � Good � Average � Poor


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7- Please give us your opinion on the following items: (check one box for each item) Excellent Good Average Poor - Length of the Conference over two days � � � � - Programme matching your expectations � � � � - Balance between plenary & parallel sessions � � � � First day of the conference - Diagnosis, discrimination, compensation � � � � - Benchmarking initiatives � � � � - Building cooperation � � � � - Targeting research to improve qual. of life � � � � Second day - Parallel (5): care � � � � - Parallel (7): care (continued) � � � � - Parallel (6): Research � � � � - Parallel (8): Research (continued) � � � � - Treating with orphan drugs � � � � - Moving forward in Europe � � � � - Interest of the poster session � � � � - Conference documents � � � � - Speakers’ respect of timing � � � � - Time allocated for discussion � � � � - Quality of the interpretation � � � � - Staff (reception desk, availability, helpfulness) � � � � - Accessibility � � � � - Conference catering � � � � - Registration process � � � � - Psico Ballet artistic event � � � � 8- Did you attend the European Conference on Rare Disorders & Disabilities 2003 in Paris-Evry? �Yes �No 9- Based on your experience at ECRD2005, would you: - attend the 4th European Conference on Rare Diseases in 2007 (held every other year)? �Yes �No - recommend attendance to a colleague? �Yes �No 10- Do you have any other comment or suggestion for the next ECRD to be held in 2007? ____________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________ 11- (Optional) We are always looking for volunteers translators (English, French, German, Italian, Spanish) to translate documents. - Are you willing and can we contact you �Yes �No - Which languages could you translate? : ________________________________ 12- (Optional) - Your name :____________________________________ - Your organisation :____________________________________ - Your email :____________________________________ Please be sure to hand-in this questionnaire at the reception desk, or to any hostess, on leaving. A thousand thanks! We wish you a great week-end and safe trip back home.


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Annex 6: Media planning

UMEMO To: Flaminia Macchia, Francois Houyez - EURORDIS From: Stefan Chrobok, Aart van Iterson – Policy Action / Fuente Communications Date: Wednesday 11 May, 2005 Re: EURORDIS Conference PR programme – overview The following is an overview of activities that Policy Action suggests are undertaken to ensure that the media are informed about and attend the June 21-22 press conference. This document is based on our joint discussion meeting, 10 May. The plan of action is based on the following (summarised) initial briefing received by EURORDIS: Objective: Raise awareness on issues of concern to EURORDIS Target audience: European and national policy makers Key messages: The messages distributed as part of the PR campaign will reflect the four key messages tabled at our joint meeting, 10 May. Tactics: Promote and communicate results of the EURORDIS conference on rare diseases to key EU media, notably: • Brussels EU press corps (and, where applicable, international press corps in Luxembourg) • Key general EU print media (European dailies etc) • Key general AV media (RTL etc), where possible focus on health-related programmes • Key European wire services (Reuters etc) • Trade media • EU media services (e.g. Europe by Satellite) Media contacts with European correspondents (Brussels and Luxembourg based) and media in vicinity of conference (i.e. Luxembourg, Belgian, Dutch, French, German press) will be prioritised. A travel incentive cannot be offered.

UProgramme elements / deliverables (the following activities are put into a timeframe in the attached work plan) Action plan It will be important to sign off the attached work plan asap. There is only a limited amount of time and resources available to complete a wide variety of tasks and the plan will enable all those involved to have a clear understanding of what deliverables are expected from each party. Team composition The Policy Action team will consist primarily of Stefan Chrobok who will lead on all PR activities as outlined in the plan. He will be the key contact for both EURORDIS and the media. Stefan will be supported on an ad-hoc basis by Aart van Iterson. EURORDIS project leader will be Christel Nourissier. At EURORDIS, François Houyez will act as project manager and primary contact person for Policy Action. He will liaise with Stefan Chrobok on content issues and will be responsible to ensure that materials prepared by Policy Action are signed off for dissemination as quickly as possible. Designated EURORDIS media spokespersons will be Terkel Andersen, Flaminia Macchia and Yann Le Cam. EURORDIS will ask Anne Laure Murier, the press officer, to assist in welcoming journalists during the press conference. Media database Policy Action will prepare a tailored media list consisting of media targets as discussed under Tactics above. Where possible and applicable, the journalists will be those who deal with medical issues. It would be advantageous if EURORDIS could input to this media list, particularly for media contacts in key markets, such as Germany, UK, and the Netherlands (eg ask national associations for media contacts they maintain etc). Some EURORDIS member organisations have already indicated willingness to either share media contacts or to distribute press releases via their own network. Materials – press kit


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Following a review of available materials, Policy Action will prepare a media kit to use with media before and during the conference. The exact contents of the media kit will depend on available materials but will most likely contain, among others, key facts on EURORDIS, biographies of President / Secretary General, overview of conference objectives / background, key facts and figures on rare diseases and patients, Q&A document, overview of key contacts (also non EURORDIS), applicable policy papers (summaries), overview of available EURORDIS literature, if available – documents outlining commitment / support for conference from Luxembourg Presidency and European Commission etc. The press kit should also be made available on the website. Materials – press releases A number of press releases are envisaged: • An early short notice including conference dates will be sent to European media maintaining an events calendar, to be co-ordinated between Policy Action and EURORDIS. • Announcement / invitation – although not strictly a press release, Policy Action would aim to send out an advance notice to all contacts in the media list to announce the press conference, provide preliminary background information and perhaps also communicate some quotes from both EURORDIS and conference supporters. This announcement / advance notice release would eventually be followed by a formal invitation including registration / accreditation information etc. • Release on related EU issue – Policy Action suggest finding a relevant event / platform / policy discussion that could be used as a hook to send out an additional press release prior to the conference to both remind journalists of the conference and generate additional interest. (Suggestions include patient mobility, paediatric regulation, five year review orphan drugs, Commission call for proposals for European funded centres of reference, upcoming EU Council meetings, UK Presidency). • Release on conference – a press release on key outcomes of the conference, including quotes from keynote speakers etc will be drafted in advance of the conference so that it can be disseminated during and after the conference. Policy Action will prepare a press release template which needs to be signed off by EURORDIS. All press releases will be disseminated by email. Follow-up / liaison with media All press releases will be followed up by telephone (to key media contacts). “Cold-calls” will be made to key media contacts to also ascertain interest in possible media interviews (both before and during conference) or establish whether additional information is required. To provide journalists with as wide a range of story angles as possible, EURORDIS will provide a list of EURORDIS spokespersons (also national level) as well as a list of possible third parties that could be interviewed (supporters, professionals, stake holders etc). EURORDIS would, of course, need to receive prior permission from these third parties to provide their names to the media. Policy Action will work under the assumption that it can freely refer journalists to anyone on this contact list. Regular updates on the status of follow-ups will be given to EURORDIS. Press conference The press conference is the key event for journalists attending the conference. The precise date, venue and press conference speakers remain to be confirmed by EURORDIS and depend also on the availability of Commissioner Kyprianou. EURORDIS is still considering inviting a representative of the forthcoming UK Presidency to the press conference. EURORDIS is currently discussing with the European Commission the possibility of providing an audiovisual link from the Luxembourg press conference to the European Commission press room in Brussels to allow for attendance of Brussels-based correspondents. The precise timing of the press conference remains to be discussed, to avoid a conflict of interest with other events (e.g. Commission mid-day briefing). It should also be considered that the European Commission is planning to issue a conference press release following the press conference. Stefan Chrobok will liaise with the relevant services. Preparation: Journalists will receive an invitation to attend the press conference, including a registration form to be returned to Policy Action. The form will also provide space for journalists to request interviews with EURORDIS representatives. Policy Action will furthermore draft the conference’s main press release, including key quotes from speakers at the event, and will compile the press kit that will become available at the press conference. EURORDIS will print sufficient copies of this press kit. Implementation: It is suggested to set up a reception desk at the site of the press conference to maintain an attendance sheet and to hand out available press materials. There will be a separate sheet for journalists to indicate requests for interviews. It would be highly desirable if EURORDIS could support this process with additional staff. Following the press conference, interviews will be arranged and overseen by Policy Action. The conference press release will be disseminated shortly after the press conference to all contacts in the media database. The full conference press kit (in electronic version) will be sent to key media contacts only. EURORDIS should publish the press kit also on its website.


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Conference follow-up Following the conference, Policy Action will remain on stand-by for any further media requests for a period of approximately two weeks. The conference press release will include contact information at Policy Action and media requests might relate to additional background materials or interviews. Policy Action will provide what materials are available and in all other cases will redirect to EURORDIS. Other issues Costs for travel and accommodation are additional to the budget agreed for the above activities and require prior approval. DRAFT Planning Eurordis programme

(all materials in English only) Delivery PAL AvI

April May June July Hours HoursDraft action plan / timing X 10 8

Develop internal messaging / Q&A document (outline key messages to be disseminated) X X 8 4Develop press kit (factsheets, biogs etc) - no design / print required X X 16 8Provide mini media training (use external supplier?) ? 0 0Develop media databank (pan-European / Brussels based). Use HFE databank? (Kyprianous cabinet will also probably be able to help) X 8 0Draft / disseminate number of press releases in run up to event (dates tbc, link to council meetings etc), also a follow-up press release X X X 16 0Organise press conference (venue will be arranged by Luxembourg presidency). Draft and disseminate media invitation, chase media X X X X X 16 0Arrange interviews during, and in run up to, press conference X X X 16 6Follow-up with media following conference X 8Administration 8 0Client meetings 8 4Liaison suppliers, Lux Pres, Cabinet etc 14 2

Figure 7: Media Planning


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Annex 7: D2.6 Press announcement

Press announcement Paris, 10 June 2005

Meeting the challenge of rarity EUROPEAN CONFERENCE ON RARE DISEASES

EURORDIS, Luxembourg, 21-22 June 2005 The European Organisation for Rare Diseases (EURORDIS) announces an important event: the European Conference on Rare Diseases, addressing current problems faced by people living with a rare disease and possible solutions to improving their situation. Hosted by the Luxembourg Presidency of the Council of the European Union, the two-day event will bring together patients, researchers, health professionals, health policy experts and representatives of the health industry.

Supported by the European Commission and under the patronage of Her Royal Highness the Grand Duchess Maria Teresa of Luxembourg, the conference will be addressed by:

o Mr Markos Kyprianou, EU Commissioner for Health and Consumer Protection o Mr Mars di Bartolomeo, Luxembourg Minister for Health

For the first time, EURORDIS will present nationally comparative data for 16 EU member states on diagnostic delays, based on a recent and unprecedented EU-wide survey among patients. It is estimated that between 30 and 35 million people in the EU suffer from a rare disease, requiring special care and an appropriate response from European health care systems. Yet co-operation at European level, especially in fundamental research, remains fragmented. Speakers at the conference will review existing initiatives for improved European co-operation, including plans for the creation of European centres of reference, and will debate priority objectives for the EU 7th research framework programme. EURORDIS will furthermore present latest epidemiological data on rare diseases and review five years of orphan drug legislation. Full details, including the conference agenda, are available on the dedicated website: http://www.rare-luxembourg2005.org/. About EURORDIS The European Organisation for Rare Diseases (EURORDIS) represents more than 225 rare disease associations in 23 different countries. It is the only organisation that represents the diversity of all rare diseases and thus speaks on behalf of millions of patients throughout the European Union affected by more than 1000 rare diseases. EURORDIS is a non-governmental patient-driven organisation, dedicated to improving the quality of life of all people living with rare diseases in Europe. It is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission and private donors. Further details concerning EURORDIS and rare diseases are available on: http://www.eurordis.org/ Note to editors:


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A press conference will be organised as part of the European Conference on Rare Diseases. A separate invitation for the press conference will be issued. For media enquiries concerning the European Conference on Rare Diseases and/or requests for interviews with rare disease specialists - before or during the conference - please contact: Stefan Chrobok Policy Action Ltd. Tel.: +32 485 063393 E-mail: [email protected] For all other enquiries, please contact: François Houÿez EURORDIS Tel.: + 33 1 56 53 52 18 E-mail: [email protected]


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Press Release Paris, 17 June 2005

One in 16 Europeans suffers from a rare disease

EURORDIS seeks a comprehensive and coordinated EU health strategy for rare diseases

An estimated 30 million people in the EU suffer from a rare disease, often without proper treatment or information about their disease. The European Organisation for Rare Diseases (EURORDIS) recently completed the most extensive survey ever conducted in Europe on diagnostic delays of rare diseases. The survey confirms excessive delays before rare disease patients receive a confirmatory diagnosis. EURORDIS raises awareness of the weaknesses of health care systems across Europe and proposes solutions to the challenge of rare diseases. The European Organisation for Rare Diseases (EURORDIS) recently completed the most extensive survey1 ever conducted on diagnostic delays of rare diseases. The findings of the Europe-wide survey - to be presented at a forthcoming Conference on Rare Diseases2 - illustrate one of the main problems faced by patients: extremely long periods of uncertainty, in some cases up to thirty years, before receiving a confirmatory diagnosis. And before even reaching this point, rare disease patients regularly receive an erroneous diagnosis, based on which they often suffer serious unfounded medical interventions, such as surgery, medicinal or psychological treatment. In many cases, genetic counselling is not proposed, despite the predominantly genetic nature of most rare diseases. EURORDIS estimates that between 6% and 8% of the EU population suffer from one of the 5000 to 7000 distinct rare diseases in existence today. Rare diseases share the characteristic of being severe, life-threatening and chronically debilitating. Yet, only few treatments are available for rare disease patients and European research on rare diseases remains fragmented. The lack of knowledge and information about rare diseases and the lack of appropriate medical training and experience of physicians contribute to the desperate situation of patients and results also in the diagnostic delays.

“Health care systems across Europe are generally incapable of dealing with the particular challenge of rare diseases”, explains Terkel Andersen, President of EURORDIS. “Patients are regularly left without proper diagnosis, are treated wrongly or not at all, they have no access to appropriate care or have to overcome great obstacles in accessing care elsewhere, outside of their own region or even outside of their own country. Rare disease patients are effectively orphaned by their health care systems. Not only do patients and their families continue to suffer the full effect of the disease but they also gradually lose confidence in the health care system and the medical profession.”

“However, solutions do exist for many of these problems, such as establishing centres of reference, the creation of databases for the exchange of information, e.g. Orphanet, DNA and tissue banks, the creation of networks of professionals, the support of EU patient groups networks, or more funding for fundamental research. Such efforts necessarily require a high degree of co-operation between national health care systems and are therefore best coordinated at European level. Therefore, EURORDIS strongly supports the 7th FP for research and the European Commission’s recent commitment to a health strategy that includes the facilitation of cross-border healthcare provision and the set-up of an EU initiative for centres of reference3” says Christel Nourissier, General Secretary of EURORDIS.


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“Rare diseases have to be tackled at European level, because of the relatively small number of people affected by each disease at national level and the limited number of researchers working on these pathologies. The already limited medical and scientific knowledge on rare diseases is often scattered throughout the EU and it is crucial to build on existing co-operation. Centres of reference can become the source of good practices and the basis of European networks. If the EU succeeds with these activities, which we honestly hope, rare diseases could yet represent a good model for a more integrated European health policy.” emphasises Yann Le Cam, CEO of EURORDIS.

EURORDIS will be addressing these and other issues at the European Conference on Rare Diseases in Luxembourg, 21-22 June 2005: http://www.rare-luxembourg2005.org.

1 EurordisCare® (2) survey comparing access to diagnosis between eight rare diseases in 17 European countries

among 6000 patients and families

1 European Conference on Rare Diseases, Luxembourg, 21-22 June 2005. Full details on: http://www.rare-luxembourg2005.org

1 Compare COM(2005) 115 final, 6 April 2005, pages 8, 31, 48

About EURORDIS The European Organisation for Rare Diseases (EURORDIS) represents more than 225 rare disease associations in 23 different countries. It is the only organisation that represents the diversity of all rare diseases and thus speaks on behalf of millions of patients throughout the European Union affected by more than 1000 rare diseases. EURORDIS is a non-governmental patient-driven organisation, dedicated to improving the quality of life of all people living with rare diseases in Europe. It is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission and private donors. Further details concerning EURORDIS and rare diseases are available on: http://www.eurordis.org/ Note to editors: For media enquiries, including enquiries concerning the European Conference on Rare Diseases, and/or requests for interviews with rare disease specialists, please contact: Stefan Chrobok Policy Action Ltd. Tel.: +32 485 063393 E-mail: [email protected]

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Annex 8: D4.1 Press materials – Press release

25% of rare disease patients in Europe wait up to 30 years for diagnosis Europe needs to develop networks of information, support

services and centres of reference

Luxembourg, 21 June 2005 - The European Organisation for Rare Diseases (EURORDIS) today presented the findings of the largest survey ever conducted, comparing access to care between European countries and between different rare diseases. Drawing on responses from 6000 rare disease patients in 17 European countries, the surveyiv exposes the sobering reality and desperate situation of rare disease patients in Europe today: 25% of all rare disease patients wait between 5 and 30 years before ever receiving a confirmatory diagnosis. And in 40% of all cases, rare disease patients suffer a misdiagnosis, based on which they regularly receive unnecessary and unjustified medical treatment, including surgery. In order to obtain the right diagnosis, 25% of patients have to travel to another region or even a different country. Introducing the results, Yann Le Cam, CEO of EURORDIS, said: “Fighting the impact of rare diseases is possible with our current medical knowledge. But we cannot accept the major differences between countries. The lack of public policies to access information, diagnosis and care in most Member States is dramatically impacting people living with rare diseases. Although it is not uncommon to suffer from a rare disease we are far from providing our patients with equal access to care and essential orphan drugs”. The presentation of EURORDIS survey results formed part of the proceedings of the European Conference on Rare Diseasesv, which is currently being held in Luxembourg. Hosted by the Luxembourg EU Presidency, the conference is the only high-level event for more than 300 participants from 16 EU member states - patients, researchers, health professionals, industry representatives and health policy experts - to debate the current status and possible solutions in meeting the challenge of rare diseases in Europe. “We are faced with a situation where we experience fundamental deficits in the provision of appropriate care for rare disease patients”, Terkel Andersen, President of EURORDIS, said in his opening address. “We estimate that between 6% and 8% of the EU population - one person in 16 - suffer from a rare disease, usually characterised by a severe, life-threatening and chronically debilitating condition. Yet, it is extremely difficult to even receive a confirmatory diagnosis, as our survey has shown. Treatments for rare diseases often do not exist or are not accessible. The lack of knowledge and information about rare diseases and the lack of appropriate medical training and experience of physicians have led to an untenable situation. For example, despite the fact that 80% of rare diseases are the result of a genetic disorder, 50% of all patients today are given no genetic counselling.” Solutions to the problems connected with rare diseases are therefore at the centre of discussions at the conference. Christel Nourissier, EURORDIS General Secretary, emphasises the need for a comprehensive European health care strategy that includes the establishment of European centres of reference, the development of databases for the exchange of information, the set-up of DNA and tissue banks, the creation of

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networks of professionals, public awareness-raising and funding for fundamental research. Because of the relatively small number of people affected by each disease at national level, expertise has to be created at European level. The already limited medical and scientific knowledge on rare diseases is often scattered throughout the EU. It is crucial to build on existing co-operation and initiatives such as Orphanet but also to invest in creating research synergies, for example via the 7th FPR.

continued

Speaking today at a joint press conference with Mars di Bartolomeo, Luxembourg Minister of Health, and Fernand Sauer, Director for Public Health at DG Sanco of the European Commission, Terkel Andersen summarised the position of EURORDIS: “We must abolish our borders in the fight against rare diseases and make the best of Europe, by integrating patients’ networks, research, diagnosis and treatment. We need better access to orphan drugs and care, we must allow for mobility of patients and we must protect patients and their families from pauperisation because of the costs of care. Rare diseases could make the EU a model for effective healthcare provision, if member states started to co-operate.” About EURORDIS The European Organisation for Rare Diseases (EURORDIS) represents more than 225 rare disease associations in 23 different countries. It is the only organisation that represents the diversity of all rare diseases and thus speaks on behalf of millions of patients throughout the European Union affected by more than 1000 rare diseases. EURORDIS is a non-governmental patient-driven organisation, dedicated to improving the quality of life of all people living with rare diseases in Europe. It is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission and private donors. Further details concerning EURORDIS and rare diseases are available on: http://www.eurordis.org/ Note to editors: The conference programme, proceedings and abstracts of speakers’ contributions at the European Conference on Rare Diseases in Luxembourg, 21-22 June 2005, will be available on: http://www.rare-luxembourg2005.org. For all other media enquiries and/or requests for interviews with rare disease specialists, please contact: Stefan Chrobok Policy Action Ltd. Tel.: +32 485 063393 E-mail: [email protected]

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Annex 9: D4.1 Press conference – EurordisCare results

EurordisCare® results Survey results summary Contact: Dr François Faurisson 21 June 2005 Telephone: + 33 1 56 53 52 60

[email protected]

The Rare disease dilemma: European health care systems unable to diagnose what patients are suffering from

EurordisCare® is a research programme initiated by Eurordis

(www.eurordis.org) in 2002, involving rare disease (RD) patient groups, to

survey and compare access to care between European countries and between

different rare diseases.

EurordisCare (2) compared access to diagnosis between 8 RD9, in 17 countries,

in 12 languages by 6 000 patients and families. Members of 69 patient

organisations completed and returned a questionnaire (February to September

2004).

Main results, approximated figures

� 25% of patients waited from 5 to 30 years between early symptoms and

confirmatory diagnosis of their disease.

� Before receiving a confirmatory diagnosis, 40% of patients received first an

erroneous diagnosis, others received none.

o This was the case for

� 25% of patients suffering from Marfan syndrome

� 50% of patients suffering from Ehlers Danlos disease

9 Crohn’s syndrome, Cystic fibrosis, Duchenne muscular dystrophy, Ehlers Danlos, Fragile X, Marfan syndrome, Prader Willi syndrome, and tuberous sclerosis

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o and for

� 33% of patients in Finland, Spain, United Kingdom and

Ireland

� 50% of patients in Austria, Denmark, Germany, Romania,

Sweden and Poland

� Such erroneous diagnosis led to medical interventions that were not based on a

correct diagnosis, such as:

o surgery for 16% of patients

o medicinal treatment for 33% of patients

o psychological care for 10% of patients

� Patient mobility: 25% of patients needed to travel to a different region to

obtain the confirmatory diagnosis, and 2% needed to travel to a different

country.

� The diagnosis was announced in unsatisfactory terms or conditions in 33%

of cases, and in unacceptable ones in 12.5% of cases.

� The genetic nature of the disease was not communicated to the patient or

family in 25% of cases. This is paradoxical, given the genetic origin of 80% of

rare diseases.

� Genetic Counselling existed only in 50% of cases.

o In only 40% of cases, an effort was made to discuss the diagnosis

and the genetic risk

o on the other hand, 80% of patients or their parents spontaneously

engaged a debate within the family to help diagnosing or

preventing other cases, and when this happened, it helped

diagnosing others in 30% of cases (10% affected, 20% healthy

carriers).

Conclusions

� The results of the survey highlight the dilemma of rare diseases: lack of information, lack of appropriate medical training, difficulties in accessing care,

and as a result, loss of confidence of patients in the health care system and the

medical profession.

� Detailed results, extended national data and an analysis of explanatory factors will be presented during the European Conference on Rare Diseases, ECRD 2005,

in Luxembourg, 21 June 2005.

� Solutions exist and will be debated during the conference: reference centres, data bases for exchange of information, DNA and tissues banks, networks of

professionals etc.

� A coordinated European policy for rare diseases is urgently needed.

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Annex

The EurordisCare® (2) survey compares access to diagnosis between eight rare diseases (Crohn’s

syndrome, Cystic fibrosis, Duchenne muscular dystrophy, Ehlers Danlos, Fragile X, Marfan syndrome,

Prader Willi syndrome, and tuberous sclerosis) in 17 European countries

-End-

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Annex 10: D4.1 Press conference – Biography of speakers

Terkel Andersen (President)

Danmarks Bløderforening, Denmark Danish Haemophilia Society

Terkel Andersen was elected president of Eurordis in May 2003. Terkel

Andersen was born in 1957 in Copenhagen, Denmark. A person with

haemophilia himself, he has been president of the Danish Haemophilia

Society since 1985.

Terkel Andersen served on the executive board of the World Federation of

Hemophilia from 1992 to 2002. From 1993 to ’99, he was chairman of the

European Haemophilia Consortium. Terkel has broad experience in disability and health

issues. He became involved in the rare disease field in 1983, when he joined a Nordic

project on the mapping of problems related to rare diseases.

He was one of the founders of the Danish Alliance of Rare Disorders in 1986 and worked

as the first Executive Director of the Centre for Rare Diseases and Disabilities of the

Ministry of Social Affairs in Denmark from 1990 to 2001.

Terkel Andersen has been member of the Eurordis Board of Directors since the start of

the organisation in 1997. By appointment of the Danish Minister of Social Affairs, Terkel

Andersen today chairs the Danish Committee on Volunteer Effort (Kontaktudvalget).

Christel Nourissier (General Secretary)

Alliance Maladies Rares, France French Rare Diseases Alliance

Mother of Amélie, a 25-year-old woman born with Prader Willi syndrome,

(and of Diane, Augustin and Christophe). Her background is in law and

political studies.

Christel Nourissier volunteered for the Ontario Prader Willi syndrome

association when Amélie’s rare disorder was diagnosed in Canada, then

participated in the creation of Prader Willi France in 1996, and of Alliance

Maladies Rares in 2000. She was elected at the Eurordis Board of Directors in December

2000 to represent the French Rare Diseases Alliance.

Christel Nourissier is currently serving as the General Secretary of Eurordis. She was

one of the co-ordinators of PARD and is helping to implement the PARD III project. She

co-chaired the second European conference on rare disorders and disabilities held

October 2003 in Paris, and works very closely with Eurordis’ President, directors, project

managers and staff.

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Fernand Sauer

Fernand Sauer is the Director for Public Health of the

European Commission

(Directorate-General Health and Consumer Protection) since December

2000.

He is responsible for the public health programme (2003-2008), for health

legislation on tobacco control, the quality and safety of blood, tissues and

cells, for communicable diseases and the launch of the European Centre for

Disease Prevention and Control in Stockholm (ECDC), for the establishment of the EU

Health Forum (45 NGOs) and for relations with the World Health Organization, in

particular the International Health Regulations and the Framework Convention on

Tobacco Control.

Mars Di Bartolomeo

Ministry of Health and Social Welfare, Government of Luxembourg

Mars Di Bartolomeo was born on 27 June 1952 in Dudelange.

He was appointed LSAP Parliamentary secretary in 1984 to succeed to Robert

Goebbels. Mars Di Bartolomeo was firstly elected in Dudelange in 1987 (City

Council) – then shortly after at the Chambre des deputes (Parliament) in 1989.

Re-elected at the Chambre des députés in 1994, he became Major of the City of

Dudelange after October 1993. His office started on 1 January 1994, and he remained

Major after the elections in October 1999. Four months earlier, he was elected for the

third tme to the Parliament.

In partnership with Jeannot Krecké, Mars Di Bartolomeo published a guide on taxes.

Furthermore, he became involved in social issues and developed interest in the

diversification of the economy, as well as in the cultural activities in the mine industry

area in Luxembourg.

As of 2000, he became president of the Southern district of LSAP, and was elected first

president of Prosud, to promote the development of the Southern part of Luxembourg.

After the elections on 13 June 2004, Mars Di Bartolomeo was nominated minister for

Health and Social Welfare, starting 31 Juillet 2004.

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Annex 11: Press coverage – List of published articles

Media coverage – ECRD 2005 (indicative)

Date Title Publication Author Page Country

21 June APA – Austrian Press Agency

Austria

21 June Rund 30 Millionen EU-Bürger leiden an seltenen Erkrankungen

Berliner Zeitung online Germany

21 June Mein Kind ist kleinwüchsig – Allein gelassen mit der Krankheit

DPA – German Press Agency

Birgit Reichert Germany

21 June Jeder 15. EU-Bürger hat eine seltene Krankheit

Frankfurter Rundschau online

Germany


Hamburger Abendblatt online

Germany


Leipziger Volkszeitung Germany


Newsclick.de Germany


RTL online Germany


WEB.de Germany

21 June One in three sufferers of rare diseases receive wrong diagnosis

Irish Examiner Catherine Shanahan

Ireland

21 June Enfermedades raras son mal diagnosticadas en Europa en 40% casos

Agencia EFE – Spanish Press Agency

Spain

22 June Jahrzentelang Fehldiagnosen

Der Standard Austria

22 June Dertig jaar wachten op diagnose

De Standaard Veerle Beel 5 Belgium

22 June Hurtigere diagnose Politiken Denmark 22 June Krankheiten erst sehr

spät erkannt Allgemeine Zeitung Mainz

Germany

22 June Seltene Krankheiten verbreitet

Ludwigsburger Kreiszeitung

Germany

22 June Bis zu 7000 seltene Krankheiten

Pharmazeutische Zeitung

Germany

22 June Diagnose nach 30 Jahren

Saarbrücker Zeitung 0 Germany

22 June gurke des tages Tageszeitung 22 Germany 22 June Krankheiten erst sehr

spät erkannt Wiesbadener Kurier Germany

22 June Krankheiten erst sehr spät erkannt

Wiesbadener Tageblatt Germany

22 June Elles portent mal leur nom

La Voix du Luxembourg Anne-Sophie Rihm

3 Luxembourg

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22 June Nicht selten genug, um unbeachtet zu bleiben

Luxemburger Wort Nathalie Rovatti 4 Luxembourg

22 June Forschung und Behandlung europaweit koordinieren

Tageblatt Cg 31 Luxembourg

23 June "Der kann im Zirkus auftreten"

Kölnische Rundschau Birgit Reichert 22 Germany

23 June Wenn das Kind kleinwüchsig ist ...

Mannheimer Morgen 14 Germany

23 June TV3 - Television Ireland 24 June Patients suffering from

rare diseases have high expectations of Europe

Agence Europe Europe

25 June Santé publique: un rapport dénonce les lacunes dans le traitement des maladies rares

European Information Service (EIS)

Europe

29 June Sjældne sygdomme overses

Politiken Poul Exner, Kaare Skovmand

Denmark

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22 June Nicht selten genug, um unbeachtet zu bleiben

Luxemburger Wort Nathalie Rovatti 4 Luxembourg

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22 June Dertig jaar wachten op diagnose

De Standaard Veerle Beel 5 Belgium

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22 June Forschung und

Behandlung europaweit koordinieren

Tageblatt Cg 31 Luxembourg

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22 June Elles portent mal leur nom

La Voix du Luxembourg Anne-Sophie Rihm

3 Luxembourg

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22 June Diagnose nach 30 Jahren

Saarbrücker Zeitung 0 Germany

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Berliner Zeitung online

Germany

83838383

22 June gurke des tages Tageszeitung 22 Germany

84848484


WEB.de Germany

85858585


Newsclick.de Germany

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Patients suffering from rare diseases have high expectations of Europe: better information, swift diagnosis and quality health care Luxembourg, 24/06/2005 (Agence Europe) - The Luxembourg Presidency of the Council of the European Union concluded its work on health with a conference on rare diseases, which allowed sufferers, their families and the many European support organisations to take the floor. For two days-21 and 22 June in Luxembourg- they exchanged information, first-person accounts, discussions on themes as varied as diagnostic error, improved care, and research and progress in therapies. What is a rare disease? Technically, it is a disease afflicting no more than one person in 2000. There are nearly 6000 of them in total, but many rare diseases have still not been identified. In the case of some diseases, there are only some 30 documented cases. But when put end-to-end, these diseases are a real problem for public health because, as the Director for Health at the European Commission (DG SANCO), Fernand Sauer pointed out, they add up to around 30 million sufferers in the European Union. And in many cases, these 30 million patients are suffering from extremely incapacitating illnesses. For this reason, Terkel Anderson, president of Eurordis (European Organisation for rare diseases), sees this as a "test case for cooperation" on healthcare issues in Europe. Referring to the suffering of patients and problems caused by "the increasing number of medical texts which fail to provide any solution", the Luxembourg Minister for health, Mars di Bartolomeo, also stressed that this was a "major public health problem". He stated that in the absence of broader Community competencies on healthcare matters, we should "move forward using the open method of coordination". This progress is possible, said Fernand Sauer, in the fields of best practice and in the movements of medical samples and, if necessary, patients. "We don't need laws; we need goodwill (...). And money", said Mr Sauer. Patients' expectation Summing up patient expectations, Christel Nourissier of Eurordis set a number of objectives to be achieved by 2015: -improving training- particularly the lifelong training- of paediatricians (they must also be "trained up to the doubt", Ms Nourissier noted); -reducing the administrative burden on families; -improving information about the diseases and their consequences; -improving therapy and the quality of healthcare by the creating guidelines on best practice. Christel Nourissier, whose daughter had to wait for many years before her Prader Willi Synrome was diagnosed by doctors in Ontario, Canada, even though her family is actually from France, stressed the need for doctors to go to their patients rather than putting the emphasis on the free movement of patients. "We can't drag our children the length and breadth of Europe!", she said, pleading in favour of the creation of reference Centres to study samples and, in certain cases, receive patients for an initial prescription, but whose main task would be to ensure the distribution of pathology and treatments to local doctors, particularly those working with children. Only a short time ago "nobody wanted to see ill people, who had no social existence", but "Europe is helping us out of this situation", Christel Nourissier said. Today, Europe has added value to offer by 1) improving the coordination between public health programs and research, 2) establishing a European network of reference centres, 3) creating guidelines and 4) mapping existing resources. Dr Ségolène Aymé, who heads up the "rare diseases" Task Force which was created last year by the European Commission, added to this overview by stressing the need for the Commission to create instruments to guarantee sustainable financing for long-term actions (referring in particular to information for patients or the distribution of acquired knowledge). "We must fight for rare diseases not to be penalised" by the budgetary reductions threatening the 7th framework programme of research, said Dr Aymé, who pointed out that "the scientists' agenda is not always the same as the patients' agenda" and that it should also be ensured that research is directed towards the most urgent needs of sufferers.

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The obstacle race for sufferers and their families Delays in diagnosing rare diseases constitute the first difficulty for patients. As this aspect remains poorly documented, Eurordis has undertaken to carry out an investigation (EurordisCare 2), speaking directly to sufferers via a network of 67 associations representing eight rare diseases (Crohn's disease, Duchenne's disease, Marfan Syndrome, Prader Willi Syndrome, Bourneville Pringle Syndrome, Ehlers-Danlos Syndrome, Fragile X Syndrome and cystic fibrosis) across 18 countries. Of the 18,000 patients who have received a questionnaire in their own language) 12 languages), almost 6000 have responded. This mass of information, which is without precedent in terms either of its volume or the diversity of countries of origin, gives an idea of the public health problem caused by delays in diagnosis. According to the sufferers, a quarter of patients have to wait an average of five years for the least uncommon rare diseases to be diagnosed, and up to 30 years for the very rare ones such as Ehlers-Danlos syndrome, between suffering their first symptoms and being correctly diagnosed, Dr Francois Faurisson explained. During these "lost years", 40% of sufferers are wrongly diagnosed, on the basis of which one in six patients undergo surgical treatment, and one in 10 receive psychotherapy. In this way, one quarter of all Marfan Syndrome sufferers have been wrongly diagnosed at least once. In the case of Ehlers-Danlos Syndrome, half of all patients were at first treated for a disease other than the one they have. Alongside the differences related to the physio-pathological aspect of these diseases, clear disparities can be seen between countries. Diagnostic error hits one third of patients in Finland, Spain, the United Kingdom and Ireland, and up to 50% in Austria, Denmark, Germany, Romania, Sweden and Poland. In other countries, fewer diagnostic errors are made, but in many cases, the sufferer is left without diagnosis for at least as long. It is worth noting that waiting time for the diagnosis varies between both the countries and the illness. In the case of Fragile X, for example, the diagnosis takes three times longer in France (63 months) than in Finland (21 months). All of these disparities can be explained by cultural differences, particularly in terms of perception of pain and pain thresholds, or technical differences, for example in the organisation of the health-care system. In all cases, they show that the longest delays in diagnosis are not biologically unavoidable and call for all countries to take the lead from those where the diagnostic delays are the shortest. Diagnostic error and delay drive patients from doctor to doctor- on average three or four for sufferers of cystic fibrosis and up to 13 in the case of the Ehlers-Danlos Syndrome- with the resulting loss of faith in the medical world, which affects 20% of sufferers and their families. Delays in diagnosis obviously has direct consequences on the patient and, in cases of genetic illnesses, for the family. The way the diagnosis is announced also leaves a lot to be desired in many cases: in one third of cases, patients and their families feel this to be unsatisfactory; in one case out of every eight, it is put in a way which is felt to be unacceptable. The announcement of the diagnosis, which was regularly brought up during the conference, is often made with no psychological element or, more seriously, tactlessly and without sufficient explanations. Still more surprising is the fact that in 25% of cases, the patients or family have not been made aware of the genetic nature of the disease, even though 80% of rare diseases are genetic in origin. In only 40% of cases have patients been genuinely invited to inform themselves of the genetic risk. Apart from its own results, this investigation shows that associations are an original source of scientific information thus contributing to the progress of knowledge about these diseases, Dr Faurisson adds.

24 June Patients suffering from rare diseases have high expectations of Europe

Agence Europe Europe

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23 June Wenn das Kind kleinwüchsig ist ...

Mannheimer Morgen 14 Germany

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21 June Jeder 15. EU-Bürger hat eine seltene Krankheit

Frankfurter Rundschau online

Germany

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RTL online Germany

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Ireland; Health One in three sufferers of rare diseases receive wrong diagnosis

462 words 21 June 2005 The Irish Examiner English © Irish Examiner, 2005. Thomas Crosbie Media, TCH By Catherine Shanahan ONE third of Irish patients with rare diseases are given a wrong diagnosis and suffer serious unfounded medical interventions such as surgery and medicinal or psychological treatments, a survey has found. The survey of 6,000 patients with rare diseases in 17 European countries found 25% of them waited five to 30 years between early symptoms and having the disease confirmed. Before receiving the correct diagnosis, 40% were incorrectly diagnosed and others were given no diagnosis. This was the case for a quarter of the patients surveyed who had Marfan Syndrome and half of those surveyed who had Ehlers Danlos disease. There are an estimated 1,000 sufferers of Marfan Syndrome in Ireland, a genetic disorder which may effect the skeleton, lungs, eyes, heart and blood vessels. Sufferers tend to be exceptionally tall. Approximately 800 Irish people have Ehlers Danlos Syndrome, a genetic disease characterised by skin fragility and loose joints, varying from mild instances to life-threatening. The European Organisation for Rare Diseases (Eurordis) survey, the most extensive ever conducted on diagnostic delays of rare diseases, found incorrect diagnosis led to medical interventions including surgery for 16% of patients, medicinal treatment for 33%, and psychological care for 10%. The survey also found: * 25% of patients needed to travel to a different region to obtain the diagnosis, and 2% needed to travel to a different country. * The diagnosis was announced in unsatisfactory conditions in 33% of cases, and in unacceptable ones in 12.5% of cases. * Patients or family were not told of the genetic nature of the disease in 25% of cases. This is paradoxical, given the genetic origin of 80% of rare diseases. * Genetic counselling existed only in 50% of cases. * In only 40% of cases, an effort was made to discuss the diagnosis and the genetic risk but 80% of patients or their parents spontaneously engaged a debate in the family to help diagnosing or preventing other cases, and when this happened, it helped diagnosing others in 30% of cases. Eurordis chief executive Yann Le Cam said rare diseases have to be tackled at European level due to the "relatively small number of people affected by each disease nationally and the limited number of researchers who work on the pathologies." Eurodis president Terkel Andersen said healthcare systems across Europe are mainly unable to deal with rare diseases. Results will be presented today at the European Conference on Rare Diseases in Luxembourg. Eurodis, which represents over 225 rare disease associations in 23 countries, is calling for a co-ordinated European policy to include provisions for Crohn’s Syndrome, cystic fibrosis, Duchenne Muscular Dystrophy, Ehlers Danlos, Fragile X, Marfan Syndrome, Prader Willi Syndrome, and tuberous sclerosis.

21 June One in three sufferers Irish Examiner Catherine Ireland

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of rare diseases receive wrong diagnosis

Shanahan

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22 June Seltene Krankheiten verbreitet

Ludwigsburger Kreiszeitung

Germany

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21 June Mein Kind ist

kleinwüchsig – Allein gelassen mit der Krankheit

DPA – German Press Agency

Birgit Reichert Germany

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Hamburger Abendblatt online

Germany

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23 June "Der kann im Zirkus

auftreten" Kölnische Rundschau Birgit Reichert 22 Germany

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Leipziger Volkszeitung Germany

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UE-SALUD

Enfermedades raras son mal diagnosticadas en Europa en 40% casos

Bruselas, 21 jun (EFE).- Las llamadas enfermedades raras, que afectan a menos de 5 de cada 10.000 habitantes, reciben en Europa un primer diagnóstico erróneo en el 40% de los casos, según un informe presentado hoy, martes, en un congreso europeo en Luxemburgo sobre estas patologías. El estudio, realizado por la Organización Europea para las Enfermedades Raras, pone de relieve que el 25% de los pacientes europeos que padece estos transtornos tarda entre 5 y 30 años en conocer la patología que sufre y que el 40% recibe un primer diagnóstico erróneo. En el continente, unos 25 millones de personas, entre un 6 y un 8% de la población, sufre estas patologías, que pueden ser neuromusculares, del metabolismo, del sistema nervioso, de los huesos o la piel. Debido al desconocimiento y a que su incidencia es menor a la de otras enfermedades, los afectados afrontan dificultades en el diagnóstico y tratamiento y falta de apoyo psico-social, dijo a EFE la vicepresidenta de la Federación Española de Enfermedades Raras, Rosa Sánchez de Vega. De Vega presentó hoy un informe sobre las compensaciones económicas que se conceden a los afectados por estos males, que pone de relieve que "en España estamos bastante mal, sobre todo si nos comparamos con otros países como Alemania y Dinamarca". El estudio analiza las necesidades sanitarias asociadas a cuatro enfermedades de este grupo y revela que, al no existir en España un reconocimiento de las mismas, los gastos de tratamiento asociados no están cubiertos por la Seguridad Social, añadió De Vega. Además, en España existe una dificultad adicional: como la Sanidad es una competencia transferida a las comunidades autónomas, existen grandes diferencias de tratamiento según la región, señaló. La representante de la FEDER consideró que sería positivo que los países adoptaran una normativa a nivel comunitario que permita "crear las directrices para que estos enfermos no estén abandonados". En la actualidad ya existen algunas iniciativas europeas que facilitan el intercambio de información y la creación de grupos de trabajo, sin embargo, es necesario seguir actuando, mediante "la creación de redes y de centros de referencia", explicó. El congreso, que concluirá mañana, reúne a pacientes, especialistas, profesionales sanitarios y representantes de la industria médica de todos los Estados miembros. Además asiste el ministro de Sanidad de Luxemburgo, país que ejerce la presidencia de turno de la UE este semestre, Mars Di Bartolomeo, y el comisario europeo de salud y protección al consumidor, Markos Kyrprianou. Entre otras afecciones, las enfermedades raras incluyen transtornos como el gigantismo, el enanismo, el síndrome de Cushing, las deficiencias nutritivas, algunos trastornos de la glándula tiroides, la fibrosis quística, las anemias hereditarias, la demencia presenil o la ceguera nocturna.

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21 June Enfermedades raras son mal diagnosticadas en Europa en 40% casos

Agencia EFE – Spanish Press Agency

Spain

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Annex 12: D3.1 Epidemiological Surveillance of Rare Diseases

(Rare Diseases in Numbers)

See annex 8, electronic document.

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Annex 13: Rare diseases, a public health priority

November 2005

“Rare Diseases: understanding this

Public Health Priority”

EURORDIS – Plateforme Maladies Rares – 102 rue Didot – 75014 Paris – France Tel + 33 1 56 53 52 10 – Fax + 33 1 56 53 52 15 – www.eurordis.org

© Joachim Rode

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What is a rare disease?

1 THE CONCEPT OF DISEASE 105

2 THE CONCEPT OF RARITY 105

2.1. FIGURES OF RARITY 105

2.2. PARADOX OF RARITY 106

3 DIVERSITY AND HETEROGENEITY OF RARE DISEASES 106

4 COMMON CHARACTERISTICS OF RARE DISEASES 107

5 CLARIFICATION OF SOME RELATED CONCEPTS 108

5.1. RARE DISEASES 108

5.2. NEGLECTED DISEASES 108

5.3. ORPHAN DISEASES 108

5.4. ORPHAN DRUGS 108

1 RARE DISEASES AS A REALITY 112

2 NEED FOR RAISING PUBLIC AWARENESS AND FOR APPROPRIATE

PUBLIC POLICY 113

3 NEED FOR APPROPRIATE PUBLIC HEALTH CARE SYSTEMS AND

PROFESSIONAL CARE 114

Table of Contents

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1 The concept of disease The general definition of a disease is as follows: a disease is an impairment of health or a condition of abnormal functioning10. It is a pathological condition of a part, organ, or system of an organism resulting from various causes, such as infection, genetic defect, or environmental stress, and is characterised by an identifiable group of signs or symptoms11. A patient will define himself or herself as affected by either a disease or a disorder. In this document the word “disease” is used. 2 The concept of rarity

2.1. Figures of rarity “A rare disease is a disease that occurs infrequently or rarely in the general population”. In order to be considered as rare, each specific disease cannot affect more than a limited number of people out of the whole population, defined in Europe as less than 1 in 2,000 citizens (EC Regulation on Orphan Medicinal Products). This figure can also be expressed as 500 rare disease patients out of 1 million citizens. While 1 out of 2,000 seems very few, in a total population of 459 million citizens this could mean as many as 230,000 individuals for each rare disease. It is important to underline that the number of rare disease patients varies considerably from disease to disease, and that most people represented by the statistics in this field suffer from even rarer diseases, affecting only one in 100,000 people or less. Most rare diseases do only affect some thousands, hundreds or even a couple of dozens patients. These “very rare diseases” make patients and their families particularly isolated and vulnerable. It is worth noting that most cancers, including all cancers affecting children, are rare diseases. Despite the rarity of each rare disease, it is always surprising for the public to discover that according to a well-accepted estimation, “about 30 million people have a rare disease in the 25 EU countries”12, which means that 6% to 8% of the total EU population are rare disease patients. This figure is equivalent to the combined populations of the Netherlands, Belgium and Luxembourg. Quoting from the Background Paper on Orphan Diseases for the “WHO Report on Priority Medicines for Europe and the World” – 7 October 2004: “Unfortunately, the epidemiological data that are available are inadequate for most rare diseases to give firm details on the number of patients with a specific rare disease. In general people with a rare disease are not registered in databases. Many rare diseases are summed up as “other endocrine and metabolic disorders” and as a consequence, with few exceptions, it

10 WordNet

11 Answers.com

12 Background Paper on Orphan Diseases for the “WHO Report on Priority Medicines for Europe and the World” – 7 October 2004

What is a Rare Disease?

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is difficult to register people with a rare disease on a national or international basis, and in a reliable, harmonised way”. In the case of rare cancers, many registries do not publish sufficient data that break down figures of rare tumours by type, even though this information might be available from pathological examination of tissue removed during surgery. It is worth noting that each and every one of us is, statistically speaking, a carrier of 6 to 8 genetic abnormalities, which are, usually but not always, recessive ones in their transmission. These abnormalities generally have no consequences, but if two individuals carrying the same genetic abnormality have children, these may be affected.

2.2. Paradox of rarity The above-mentioned figures mean that even though the “diseases are rare, rare diseases patients are many”. It is therefore “not unusual to have a rare disease”. It is also not unusual to “be affected by” a rare disease, as the whole family of a patient is indeed affected in one way or another: in this sense it is “rare” to find a family where nobody is - or no ancestor has been - affected by a rare (or “unknown”, “unexplained”, “strange”) disease.

A mother tells:

“At the age of 6, Samuel was diagnosed with a rare metabolic disease. Almost three years after Samuel’s death, we are still a family with a rare disease: I have discovered that I have symptoms linked to the fact that I am a carrier, my marriage broke down due to the stress of losing a child and my daughter was unable to sit her A level exams due to the grief of losing her little brother and her father leaving”. 3 Diversity and heterogeneity of rare diseases From the medical perspective, rare diseases are characterised by the large number and broad diversity of disorders and symptoms that vary not only from disease to disease, but also within the same disease. The same condition can have very different clinical manifestations from one person affected to the other. For many disorders, there is a broad diversity of subtypes of the same disease. It is estimated that between 5.000 and 7.000 distinct rare diseases exist today, affecting patients in their physical capabilities, their mental abilities, in their behaviour and sensorial capacities. Many disabilities can coexist for a given person, and this is defined as a polyhandicap. Rare diseases also differ widely in terms of severity, but in average the life expectancy of rare disease patients is significantly reduced. The impact on life expectancy varies greatly from one disease to the other; some cause death at birth, many are degenerative or life threatening, whilst others are compatible with a normal life if diagnosed in time and properly managed and/or treated. 80% of rare diseases have identified genetic origins, involving one or several genes or chromosomal abnormalities. They can be inherited or derived from de novo gene mutation or from a chromosomal abnormality. They concern between 3% and 4% of births. Other rare diseases are caused by infections (bacterial or viral), or allergies, or

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are due to degenerative, proliferative or teratogenic (chemicals, radiations, etc) causes. Some rare diseases are also caused by a combination of genetic and environmental factors. But for most rare diseases the etiological mechanisms are still unknown due to lack of research to find the physiopathology of the disease. There is also great diversity in the age at which the first symptoms occur. Symptoms of many rare diseases appear at birth or in childhood, including Infantile Spinal Muscular Atrophy, Neurofibromatosis, Osteogenesis Imperfecta, Rett syndrome and most metabolic diseases, such as Hurler, Hunter, Sanfilippo, Mucolipidosis Type II, Krabbe diseases, Chondrodysplasia. In some cases, the first symptoms of the disease, such as Neurofibromatosis, may occur in childhood, but this does not prevent much heavier symptoms to occur at a later stage of life. Other rare diseases, such as Huntington disease, Spinocerebellar Ataxias, Charcot-Marie-Tooth disease, Amyotrophic Lateral Sclerosis, Kaposi’s Sarcoma and thyroid cancer, are specific to adulthood. Whilst many diseases cause symptoms in childhood, these symptoms may not translate into a specific rare diagnosis for years. It is also to be underlined that relatively common conditions can hide underlying rare diseases, e.g. autism (in Rett syndrome, Usher syndrome type II, Sotos Cerebral Gigantism, Fragile X, Angelman, Adult Phenylketonuria, Sanfilippo,…) or Epilepsy (Shokeir syndrome, Feigenbaum Bergeron Richardson syndrome, Kohlschutter Tonz syndrome, Dravet syndrome…). For many conditions described in the past as clinical ones such as mental deficiency, cerebral palsy, autism or psychosis, a genetic origin is now suspected or has already been described. In fact, a rare disease can be masked by a host of other conditions, which may lead to misdiagnosis. 4 Common characteristics of rare diseases Despite this great diversity, rare diseases have some major common traits. The main characteristics are as follows:

• Rare diseases are severe to very severe, chronic, often degenerative and life-threatening;

• The onset of the disease occurs in childhood for 50% of rare diseases;

• Disabling: the quality of life of rare diseases patients is often compromised by the

lack or loss of autonomy;

• Highly painful in terms of psychosocial burden: the suffering of rare disease patients and their families is aggravated by psychological despair, the lack of therapeutic hope, and the absence of practical support for everyday life;

• Incurable diseases, mostly without effective treatment. In some cases, symptoms

can be treated to improve quality of life and life expectancy;

• Rare diseases are very difficult to manage: families encounter enormous difficulties in finding adequate treatment.

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5 Clarification of some related concepts It is not unusual to read documents and publications in which the concepts of rare diseases, neglected diseases, orphan drugs and orphan diseases are not clearly defined and used as interchangeable concepts. This situation has led to misperception and confusion as to precisely what each of these concepts refers to and/or as to what reality each of them covers.

5.1. Rare diseases Firstly, rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world. Because rare disease patients are a minority, there is a lack of public awareness; these diseases do not represent a public health priority, and little research is performed. The market is so narrow for each disease that the pharmaceutical industry is reticent to invest in research and to develop treatments for rare diseases. There is therefore a need for economic regulation, such as national incentives, as provided for in the EC Orphan Drug Regulation.

5.2. Neglected diseases

Neglected diseases are common, communicable diseases that mainly affect patients living in developing countries. Because they are not a public health priority in the industrialised countries, little research and drug development is performed for these diseases. They are “neglected” by the pharmaceutical industry because the market is usually seen as unprofitable. There is a need for economic regulation and alternative approaches in this field in order to create incentives aimed at stimulating research and developing treatments to fight neglected diseases, which are prevalent in developing countries. Neglected diseases are therefore not rare diseases.

5.3. Orphan diseases

Orphan diseases comprise both rare diseases and neglected diseases. They are “orphan” of research focus and market interest, as well as of public health policies.

5.4. Orphan drugs Orphan drugs are medicinal products intended for the diagnosis, prevention or treatment of rare diseases. These drugs are called "orphan" because, under normal market conditions, it is not cost-effective for the pharmaceutical industry to develop and market products intended for only a small number of patients suffering from rare conditions. The drugs developed for this unprofitable market would not be financially viable for the patent-holding manufacturer. For drug companies, the cost of bringing an orphan medicinal product to the market would not be recovered by the expected sales of the product. For this reason, governments and rare disease patient organisations have emphasised the need for economic incentives to encourage drug companies to develop and market medicines intended for the "orphaned" rare disease patients.

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Beyond the diversity of the diseases, rare disease patients and their families are confronted with the same wide range of difficulties arising directly from the rarity of these pathologies:

• Lack of access to correct diagnosis: the period between the emergence of the first symptoms and the appropriate diagnosis involves unacceptable and highly risky delays, as well as wrong diagnosis leading to inaccurate treatments: the pre-diagnosis maze;

• Lack of information: about both the disease itself and about where to obtain

help, including lack of referral to qualified professionals;

• Lack of scientific knowledge: this results in difficulties in developing therapeutic tools, in defining the therapeutic strategy and in shortage of therapeutic products, both medicinal products and appropriate medical devices;

• Social consequences: living with a rare disease has implications in all areas of

life, whether school, choice of future work, leisure time with friends, or affective life. It may lead to stigmatisation, isolation, exclusion from social community, discrimination for insurance subscription (health insurance, travel insurance, mortgage), and often reduced professional opportunities (when at all relevant);

• Lack of appropriate quality healthcare: combining the different spheres of

expertise needed for rare disease patients, such as physiotherapist, nutritionist, psychologist, etc… Patients can live for several years in precarious situations without competent medical attention, including rehabilitation interventions; they remain excluded from the health care system, even after the diagnosis is made;

• High cost of the few existing drugs and care: the additional expense of coping

with the disease, in terms of both human and technical aids, combined with the lack of social benefits and reimbursement, cause an overall pauperisation of the family, and dramatically increases the inequity of access to care for rare disease patients.

• Inequities in availability of treatment and care: innovative treatments are often

unevenly available in the EU because of delays in price determination and/or reimbursement decision, lack of experience of the treating physicians (not enough physicians involved in rare diseases clinical trials), and the absence of treatment consensus recommendations.

The first struggle facing patients and families is to obtain a diagnosis: it is often the most despairing fight. This struggle is repeated at every new stage of an evolving or degenerative rare disease. The lack of knowledge of their rare pathology often puts the life of patients at risk and results in enormous wastage: pointless delays, multiple medical consultations and prescription of drugs and treatments that are inappropriate or

Living with a rare disease: same difficulties - different specificities

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even harmful. Because so little is known about most rare diseases, accurate diagnosis is regularly made late, when the patient has already been treated - during many months or even years - for another more common disease. Often, only some of the symptoms are recognised and treated. A survey by Eurordis (EurordisCare2)13 focusing on diagnostic delays for rare diseases, has revealed that, for Ehlers Danlos syndrome, 1 out of 4 patients waited for more than thirty years before being given the right diagnosis. 40% of patients participating in the survey received a wrong diagnosis before being given the right one. Among them:

• 1 out of 6 underwent surgical treatment based on this wrong diagnosis; • 1 out of 10 underwent psychological treatment based on this wrong

diagnosis. The consequences of diagnosis delay are tragic:

• Other children born with the same disease; • Inappropriate behaviour and inadequate support from family members; • Clinical worsening of the patient’s health in terms of intellectual, psychological

and physical condition, even leading to the death of the patient; • Loss of confidence in the healthcare system.

In the absence of correct diagnosis, emergency units are not in a position to treat the patient appropriately, e.g. headache treated as migraine in a neurological emergency unit, whereas a brain tumour is the underlying cause of the pain. Without a diagnosis, when the patient is a child, the family feels particularly guilty because the child is “acting weird” and is not performing normally in terms of mental and psychomotor development. Any abnormal eating behaviour, which accompanies many rare diseases, is frequently blamed on the mother, causing guilt and insecurity. Incomprehension, depression, isolation and anxiety are an intrinsic part of the everyday life of most parents of a child affected by a rare disease, especially in the pre-diagnosis phase. The whole family of a rare disease patient, whether children or adults, is affected by the disease of the loved one and becomes marginalized: psychologically, socially, culturally and economically vulnerable. In many cases, the birth of a child with a rare disease is a cause for parental splitting. Another crucial moment for rare disease patients is the disclosure of diagnosis: despite the progress made over the last ten years, the diagnosis of a rare disease is all too often poorly communicated. Many patients and their families describe the insensitive and uninformative manner in which diagnosis is given. This problem is common among health care practitioners, who are too often neither organised nor trained in good practice for communicating diagnosis. Up to 50% of patients have suffered from poor or unacceptable conditions of disclosure. In order to avoid face-to-face disclosure, doctors often give the terrible

13 More information about the EurordisCare 2 survey can be found on the following websites: http://www.eurordis.org and http://www.rare-luxembourg2005.org/

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diagnosis by phone, in writing - with or even without explanation – or standing in the corridor of a hospital. Training professionals on appropriate ways of disclosure would avoid this additional and unnecessary pain to already anguished patients and families. Further schooling in “breaking in bad news” to patients constitutes an important aspect of medical training.

A father tells:

“When I went to pick up my one year-old daughter in the hospital after I had to leave her for many hours of examinations and testing, I anxiously asked the paediatrician what my baby was suffering from. The doctor hardly looked at me and, rushing down the corridor, shouted: “This baby, you better throw her away, and get another child”. Whatever the conditions of disclosure are, the diagnosis of a rare disease means that life is toppling. In order to help rare disease patients and their families face the future and avoid their world collapsing, psychological support is greatly needed. Every mother and father knows how many worries and hopes are involved in having a child. But what it means to be diagnosed - or having a child diagnosed - with a rare disease cannot be explained.

Parents’ words: “All parents worry about their child’s future. When you have a child who is profoundly and multiply disabled, these worries are very different and assume enormous proportions. The future is so daunting that often families do choose to live one day at the time. To think about the future is too painful”. A testimony:

When Jake was diagnosed with this serious life-threatening metabolic liver disease our hopes and dreams for his future were shattered. When your first son is born you have dreams about him becoming a professional football player or maybe a doctor. These dreams were replaced by new dreams such as hoping we will be able to take him home from hospital and hoping that he will live long enough to hear our child saying “Mummy” and “Daddy”.

Of course, the level of existing knowledge varies greatly between “rare” and “very rare” diseases. How well a rare disease is known determines both how rapidly it is diagnosed and the quality of medical and social coverage. Patients’ perception of the quality of their lives is linked more to the quality of care provided, than to the gravity of the illness, or the degree of the associated disabilities. Because of the limited level of knowledge of the medical community, the coverage provided by the public health care system is generally totally inadequate. Lack of effective treatment is due both to a scarcity of research and to the fact that developing drugs for a small population is not commercially viable without economic incentives. But it has to be underlined that many rare diseases are transmitted along different generations, and therefore investing in the fight against rare diseases today may be a very profitable investment.

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on the long run. 1 Rare diseases as a reality It is fundamental to realise that rare diseases can affect any family at any time. It is not just “something terrible that happens to other people”. It is a very cruel reality that can happen to anyone, either when having a child or in the course of one’s own life. In fact, the terminology “rare diseases” only highlights the characteristic of rarity of the complex and heterogeneous mosaic of an estimated 7,000 life-threatening and heavily debilitating conditions. This terminology, which only underlines rarity, immediately puts a reassuring distance between the “poor people to whom something so terrible has happened” and the vast majority of citizens who feel protected by the low prevalence of rare conditions. If these diseases were officially called “terrible diseases that slowly kill your child - or yourself and you are alone”, which is more like the truth, the existence of about 30 million people directly affected would strike public opinion more. Fortunately and mainly thanks to the relentless work of patient and parent organisations, things are slowly changing. Until recently, public health authorities and policy makers have largely ignored rare diseases. Today, and even though the number of specific rare diseases which are known is still very limited, we can witness an awakening of some parts of public opinion and, as a consequence, some actions are being taken by public authorities. The rare diseases for which a simple and effective preventive treatment is available are even being screened for, as part of public health policy. But this is not enough, and it is time for public authorities to consider rare diseases as a Public Health priority and take action to concretely support patients and families affected by rare diseases. As we know, most of these diseases involve sensory, motor, mental and physical impairments. These difficulties can effectively be reduced by the implementation of appropriate public policies. As underlined in the Background Paper on Orphan Diseases for the WHO Report on Priority Medicines for Europe and the World, “despite the growing public awareness of rare diseases in the last one or two decades, there are still many gaps in knowledge related to the development of treatment for rare diseases. Policymakers have to realise that rare diseases are a crucial health issue for about 30 million people in the EU”. The social aspects and implications of rare diseases also have to be kept in mind: the territorial and financial services to support families and patients have to be organised and developed on a local basis, such as day care services, respite centres, emergency units, socialisation and rehabilitation centres, summer camps, education services and professional training. The problems related to the “after us” - when the life-long carer and/or parent of a rare disease patient disappears - have to be tackled and brought to the attention of national and European decision-makers. The current experiences in this field have to be evaluated and valid organisational and managerial models have to be defined. It has to be underlined that the challenges and problems in relation to the social

Fight for recognition

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services do last for the whole life of a rare disease patient and become so important that medical aspects of the disease can be given second line priority. 2 Need for raising public awareness and for appropriate public policy The reasons why rare diseases as a whole have been ignored for so long are better understood today. Clearly, it is impossible to develop a national public health policy specific to each rare disease. However a global - rather than piecemeal - approach can give rise to suitable solutions. A global approach to rare diseases enables the individual rare disease patient to escape isolation. Appropriate public health policies can be developed in the areas of scientific and biomedical research, industry policy, drug research and development, information and training of all involved parties, social care and benefits, hospitalisation and outpatient treatment. In order to foster clinical research, the public funding of rare disease clinical trials should be promoted through national or European measures. Healthcare professionals, public health experts and policy makers cannot apply traditional responses and prioritisation to greater need. This approach is not valid for rare diseases and is not ethically sustainable. Concerning scientific research, there is a striking need for increased international cooperation. The existing research efforts are still scattered and fragmented research is being performed with little coordination between research laboratories. For rare diseases, the resources being very limited and patient populations being very small, the lack of coordination is particularly detrimental to the increase of knowledge on rare diseases. In this particular context, unnecessary duplication of research raises important ethical concerns. Medical and scientific knowledge about rare diseases is lacking. While the number of scientific publications about rare diseases continues to increase - particularly those identifying new syndromes - less than 1,000 diseases benefit from a minimum of scientific knowledge, and these are essentially the “most frequent” amongst rare diseases. The acquisition and diffusion of scientific knowledge is the vital basis for identification of diseases, and most importantly, for research into new diagnostic and therapeutic procedures. Furthermore, “history shows that a major part of universal medical knowledge we have gained over centuries started with rare disease research. The model of a rare disease has helped to understand more common diseases. Also new techniques are developed using rare diseases for models. For example, research on gene therapy is being done with rare diseases such as X-linked severe combined immunodeficiency, cystic fibrosis, Gaucher disease and haemophilia”14. Easily overlooked by doctors, research scientists and politicians, only the rare diseases that have succeeded in attracting public attention benefit from a public research policy and/or medical coverage. It is mainly patient associations that have raised public awareness. And when this has been possible, progress was made in treating the disease. Patients and families together with health professionals – doctors, scientists and healthcare providers – are co-producing a knowledge base.

14 Background Paper on Orphan Diseases for the “WHO Report on Priority Medicines for Europe and the World” – 7 October 2004

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From the Agrenska Center in Sweden, we can quote the following reactions from patients and families who have participated in the Family Program: • We finally get a true perspective on our children’s disability; • We now feel “normal”; • Exchange of experience is as important as expertise knowledge. 3 Need for appropriate public health care systems and professional care After the appearance of the first symptoms, there is an initial battle for diagnosis, which can last for years. After the diagnosis, comes for patients and their families the fight to be heard, informed and directed towards competent medical bodies, where they exist, in order to get the most adequate existing treatment. After the diagnosis, patients and their families are too often faced with seriously inadequate health and social care. For the vast majority of rare diseases, no protocol exists for good clinical practices. Where it does exist, the completeness of dissemination may not be optimal: not all healthcare professionals are always adequately trained, not all EU countries have adopted and shared the protocols. Additionally, the segmentation of medical specialities is a barrier to the comprehensive care of a patient suffering from a rare disease. Families and health care workers frequently complain about the extreme difficulty in

taking the necessary administrative steps required to receive social benefits. Major and arbitrary disparities exist between countries - and even between regions within the same country - in the allocation of financial aid, income support and reimbursement of medical costs. Usually in Europe, treatment costs incurred are often higher than they are for other diseases because of the rarity of the disease and the limited number of specialised centres. In most cases, a significant proportion of these expenses is born exclusively by the families, thereby generating an additional inequality between rich rare disease patients and poor rare disease patients. Travel costs to specialised centres are high in terms of time off work and financial cost. Furthermore, the anxiety is amplified because usually only one parent can travel whilst the other looks after other children or has to work.

It is also important to underline that, in a family where a child has a rare disease, most often one of the parents – usually the mother – either completely stops or significantly reduces work remunerated outside home. As a consequence, while expenses increase dramatically, incomes is considerably reduced. In the case of an adult rare disease patient who is well enough to be able to work, the work hours must be adapted to allow for medical visits and appropriate care. In terms of logistics, much remains to be done to ensure real equality between a disabled and a healthy citizen. It is well accepted that impairment leads to a disability if the environment and regulations do not take into account the special needs of people with impairment to participate in society. The impairment is a part of our being. The disability comes from outside by disabling factors. For some rare diseases, such as familial Mediterranean fever, fragile X syndrome and cystic fibrosis, treatment protocols and defined medical, social and educational programmes exist in certain countries, as well as more or less well-targeted screening programmes. When antenatal and asymptomatic phase screening methods for rare diseases allow for early and effective medical coverage, they should be implemented because they can

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significantly improve quality and length of life. Other screening programmes should be introduced as part of Public Health policies as soon as simple and reliable tests and effective treatments exist. Qualitative and quantitative progress in prognosis and clinical treatment is raising new public health questions about policies on generalised and targeted screening for some diseases.

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Of course great hopes are raised and profound changes expected from scientific and therapeutic progress. But currently, the existing public research programmes for rare diseases are not sufficient; drug development to treat a small number of patients remains very limited and adequate non-medicinal healthcare is also lacking. In addition to the general shortage in terms of treatment and care, the surrounding psychological desert is particularly painful for individual patients and parents. Not only are you – or your child or family member – affected by a disease about which hardly anything is known, but also nobody understands what you personally – as patient or parent – endure in your daily life. Just to hear the words “I understand” and being able to share stories and tips about your daily experience can be of tremendous help. Sometimes it is even possible to laugh together about painful realities in order to release the unbearable tension that is part of the everyday life of rare disease patients and parents, but this important “outlet valve” is only possible if you first feel totally understood, in absolute security and in an environment safe from judgement. This is why patients and parents have developed a variety of “self-help support groups”. There could be value in patient organisations actively initiating and promoting support groups and electronic email discussion groups which link patients and also families and carers, as a means of overcoming the triple problem of geographical, sensorial isolation and rarity. In this context of insufficient scientific knowledge base and human isolation, rare disease patients and their families are known to be more pro-active than patients suffering from other common illnesses because they have often become as knowledgeable - or even much more - about their affliction as health professionals supposed to alleviate their sufferings. Rare disease patient and parent organisations have been created as a result of experience gained by patients and their families from being so often excluded from health care systems and thus having to take charge of their own disease themselves. The scientific community’s inadequate knowledge of rare diseases and the scarce attention given to them by national competent authorities and the pharmaceutical industry has lead to the creation of associations of patients and parents. Rare disease patient associations aim at gathering, producing and disseminating the limited existing information on their disease and making patients and parents voices’ heard. Their actions have already ensured progress in healthcare and social assistance provided to patients and parents, development of treatments, and in raising public awareness of rare diseases. In some cases, few patient organisations have managed to raise funds in order to fund research projects that otherwise would not have been carried out.

From isolation to empowerment of patients

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� The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research: therefore, without reason to hope15.

� In this general framework studded with difficulties, it has to be underlined that

there is always something useful that can be done even with the existing, limited but growing, knowledge and means: with the help of re-education and rehabilitation schemes, the recently designated and authorised Orphan Drugs, the progress made in the fields of physiotherapy, nutrition and dietetics, pain management, psychology, medical devices, advanced therapies, information exchange practices, the national public health systems could achieve much more in order to improve quality of life and life expectancy of rare disease patients.

� At national level, some EU Member States have developed specific public

policies on rare diseases: these countries are Denmark, France, Italy, Sweden, Spain and the UK.

� At EU level, in addition to the Regulation on Orphan Medicinal Products, the

current reflection on Centres/Networks of Reference to tackle conditions requiring a high concentration of expertise shows a growing awareness by EU decision-makers of the intrinsic European added value of rare diseases, which by their nature require action to be taken at international level. Centres of Reference could be either disease-specific, or specialised by group of rare diseases. Existing and developing networks of health professionals and embryonic co-operation between laboratories demonstrate that some best practices do already exist, even though they are limited, and have to be shared and disseminated. A main effort still remains to foster and stimulate research in order to increase the existing knowledge, which is far from being enough to meet the challenges of rare diseases.

About EURORDIS The European Organisation for Rare Diseases (EURORDIS) represents more than 200 rare disease organisations in 24 different countries, covering more than 1,000 rare diseases. It is therefore the voice of the 30 million patients affected by rare diseases throughout Europe. EURORDIS is a non-governmental patient-driven alliance of patient organisations and individuals active in the field of rare diseases, dedicated to improving the quality of life of all people living with rare diseases in Europe. It is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission, corporate foundations and the health industry. EURORDIS was founded in 1997. Further details concerning EURORDIS and rare diseases are available at: http://www.eurordis.org

15 “Avis et Rapports du Conseil Economique et Social”, edition 2001, Journaux officiels de la République Française.

Conclusion

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Annex 14: DG Research workshop 12-13 April 2005

Identifying the research needs of the Rare Diseases community Workshop organised by the European Commission

Directorate General for Research, Health Directorate – 12 and 13 April 2005

Highlights of the discussion and recommendations

The objective of the meeting was, in an exchange with Rare Disease stakeholders, to identify the research needs of the Rare Diseases Community. Invited Representatives of these stakeholders in the field of Rare Diseases were:

� coordinators and participants in projects of 5th and 6th Framework Programmes for Research and Technological Development (FP5 and FP6),

� patients’ representatives, � biopharmaceutical industry representatives, � European Medicines Agency (EMEA), � European Commission (DG SANCO, DG ENTR, DG RTD).

The aim of the workshop was to provide the European Commission with specific recommendations in relation to the field of Rare Diseases as to:

� The types of projects (for instance collaborative research projects, coordination/networking, new facilities, etc.),

� Size of projects (limited and/or extended, for instance Specific Targeted Research Project (STREP) vs. Integrated Project (IP),

� Potential priorities in fields to be covered ("horizontal" fields like animal models, methods for clinical trials, or "vertical" priorities e.g. studies from gene to disease to develop new therapeutic approaches in a specific condition/group of diseases),

� Αny other suggestion for optimising Rare Disease research in the EU programmes. As a basis for the discussion, various FP5 and FP6 projects were presented (see agenda attached), to discuss their adequacy with regard to the questions to be answered in the field.

The needs identified by patients’ representatives and the EMEA were presented as well.

Highlights of the DISCUSSION

� There was a consensus that the FP6 approach of defining strictly both focused topics and the instrument to be used per topic was too restrictive, and could hamper the development of innovative approaches/emerging fields.

� The European Commission was afraid that a completely bottom-up, open system (without orientation neither of topics nor of instruments) would lead to oversubscription and very low success rate, which is unacceptable for the scientific community. It was generally agreed that a semi-determined approach should be used, by letting the consortia choose the instrument best appropriate to the research they plan to conduct in answer to a topic not focused on a specific disease.

� The size of the consortium depends on the research effort needed. In the Rare Diseases field, multidisciplinary approaches are key to successfully link basic

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knowledge to clinical research (translational research), and consortia with 10-20 partners are not to be considered as exceptional. Smaller consortia might still be highly effective when the basic knowledge of disease/pathways is missing, and needs to be gained before translating it to clinical research. In conclusion: flexibility on the size of the consortium should be allowed.

� The idea was raised to propose two sets of instruments (research type, coordination type), the size of the project being adapted to the specific needs in function of the existing knowledge, and to the experience of the consortium partners to develop collaborative projects. In order to stimulate the research community, specific calls for workshops (specific support actions) should be published, supporting the meeting of potential partners for 2-3 days to discuss what kind of collaboration they need and the future strategy to organise their new project (“project building workshops”).

� It was felt necessary to support emerging projects/teams, by the publication of specific calls for small consortia dedicated to focused projects (e. g. 3 partners, 1 million Euro).

� The typical level of funding within a certain type of instrument should be made clear to the scientific community, to avoid later budget cuts.

� The inadequacy of short term projects (e. g. 3 years) to tackle chronic diseases was highlighted. Longer term support was seen as necessary in these cases. However it was felt that long contracts (e. g. 7 years) might not be flexible enough to adapt to emerging needs.

� Moreover it appears impossible to ensure funding from one Framework Programme to the next one, which remains a decision of the European Council and European Parliament.

� Concerning the topics, the “expression of interest” exercise (2002), which served as a basis to develop the topics of the first calls, was perceived as arbitrary. It led to preventing too many teams to apply for funding. Given the number of individual rare diseases, the experts consider very difficult to prioritise certain diseases/groups of diseases. Topics should hence not be focused on specific disease(s).

� For the definition of topics it was suggested that high level advisors acting in the interest of the whole rare diseases scientific community be recruited from learned societies and represent Rare Diseases in the scientific advisory groups used by the European Commission.

� The following priorities were highlighted as particularly important: − infrastructures: access to existing infrastructures (extra budget allocated to tackle rare diseases); new infrastructures if necessary: o identification of genes and haplotyping o protein pathways: proteomics, high-throughput analysis, 3D structure, metabolic profiling, molecular screening o animal models (nematodes, drosophila, Zebra fish, mouse, rat, cat, dog) o data management (hosting; analysis) o biobanks − natural history of diseases (throughout Europe) − mendelian phenotypes of common diseases (including modifier genes)

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− physiopathology and mechanism of (groups of) diseases (including disease course and modifier genes) − pre-clinical and early clinical studies (including phase 1 and phase 2 clinical trials) − therapeutic interventions: o gene therapies o cell therapies o drugs (including substitution therapies) o devices − social sciences (social perception/daily experience/impact of early diagnosis/genetic counselling).

� More specifically on (pre)clinical studies: it was stressed that the degree of knowledge varies between rare diseases. The designation of an orphan medicinal product by the EMEA might be used as a criterion to focus on those rare diseases, for which sufficient knowledge is available so as to provide a good basis and strong evidence to build (pre)clinical studies. Industrial participants should be encouraged to participate in these projects to increase the potential of drug delivery.

� In order to best implement the coordination of this very heterogeneous field the need emerged of having a centralised “infrastructure” overseeing generally the actions (regional, national, European, international) undertaken throughout Europe, and monitoring state of the art research in the field of rare diseases. This “infrastructure” could take the form of a network organised around platforms.

� Finally given the importance of Rare Diseases as models for more common disorders, and the high burden they represent for the society, it was felt that research on Rare Diseases would deserve a separate bullet point within the Health theme of the 7th Framework Programme.

RECOMMENDATIONS of the group

Types and size of projects

Collaborative projects should be maintained for the RD area, which offers a high European added-value. Individual teams would not be able to tackle all issues raised in these disorders, which need multidisciplinary approaches and offer access to as many patients as possible. Coordination type of projects (such as coordination actions, networks of excellence) should be maintained, but rare disease researchers need to be supported to perform their research. Hence, research projects (such as specific targeted research projects or integrated projects) are needed as well. Specific calls should be dedicated to emerging projects (focused projects; small size consortia), as well as “project building” workshops. Priorities

Topics should not be focused on specific disease(s), rather concentrate on open priorities: • infrastructures: − identification of genes and haplotyping − protein pathways − animal models

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− data management − biobanks • natural history of diseases (throughout Europe) • mendelian phenotypes of common diseases (including modifier genes) • physiopathology and mechanism of (groups of) diseases (including disease course and modifier genes) • pre-clinical and early clinical studies (including phase 1 and phase 2 clinical trials) • therapeutic interventions: − gene therapies − cell therapies − drugs (including substitution therapies) − devices • social sciences (social perception/daily experience/impact of early diagnosis/genetic counselling).

Agenda for the workshop on Rare Disease Research – 12 and 13 April

05 12 April 2005

10:00 Welcome address 10:15 DG RTD activities in the field of Rare Diseases – Alain Vanvossel

11:00 DG SANCO Rare Diseases activities – John Ryan

11:20 Coffee break 11:35 FP5 RTD project (The pemphigoids, autoimmune blistering diseases of the skin and mucosae:

immunopathogenic mechanisms, prognostic and diagnostic markers); FP6 CA project (Rare genetic skin diseases: advancing diagnosis, management and awareness through a European network). (G. Zambruno)

11:50 FP5 TN (Thematic network around cystic fibrosis and related diseases); FP6 NoE (Genetic testing in Europe - Network for test development harmonization, validation and standardization of services). (J.-J. Cassiman)

12:05 FP6 IP project (European integrated project on spinocerebellar ataxias (EUROSCA): Pathogenesis, genetics, animal models and therapy) (H. Graessner)

12:20 FP6 STREP project (Cell biology of rare monogenic neurological disorders involving KCNQ channels) (A. Villaroel)

12:35 FP6 SSA project (Platform of information services for the coordination of rare disease research with various stakeholders from research, SMEs and patient organisations and the coordination of early clinical trials) (S. Aymé)

12:50 LUNCH 14:00 FP6 ERA-Net project (ERA-Net for research programmes on rare diseases) (P. Borensztein)

14:15 Conclusions from the 1st International Conference on Rare Diseases and Orphan Drugs (Stockholm, February 2005; J.I. Henter)

14:30 Research needs identified on the basis of the activities of the COMP (J. Llinares Garcia/J. Torrent i Farnell)

14:45 The EURORDIS position paper on research priorities for the 7th Framework Programme (F. Bignami/C. Nourissier)

15:00 Discussion 16:00 Coffee break 16:15 Discussion (continued)

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17:30 End day 1

13 April 2005

9:00 Discussion (continued) 10:30 Coffee break 10:45 Discussion (end) + recommendations 12:00 Concluding remarks 12:30 End workshop

List of participants Ms Arrazola Judith University of Barcelona Spain Dr Aymé Ségolène INSERM France Dr Berens Catherine European Commission DG RTD Belgium Dr Bignami Fabrizia EURORDIS France Dr Borensztein Pascale GIS-Institut des maladies rares France Dr Briggs Michael University of Manchester United Kingdom Prof. Cassiman J.-Jacques University of Leuven Belgium Ms Dreesen Nathalie EBE - Emerging Biopharmaceutical Enterprises Belgium Dr Graessner Holm University of Tübingen Germany Mr Gutierrez Peter European Service Network Belgium Prof. Henter Jan-Inge Karolinska Hospital Sweden Prof. Holland Anthony University of Cambridge United Kingdom Dr Ilinares Garcia Jordi European Medicines Agency (EMEA) United Kingdom Prof. Kämpe Olle Uppsala University Sweden Prof. Lehesjoki Anna-Elina University of Helsinki Finland Prof. Matthijs Gert University of Leuven Belgium Mrs Nourissier Christel EURORDIS France Prof. Palacín Manuel University of Barcelona Spain Prof. Pronicka Ewa Children's Memorial Health Institute Poland Mr Ryan John-F European Commission DG SANCO Luxembourg Dr Schuster Ralph German Ministry of Education and Research Germany Prof. Schwartz Ketty INSERM France Dr Schyns-Liharska Tsvetana European Network for Research on Alternating Hemiplegia Austria Prof. Tanner M. Stuart University of Sheffield United Kindgdom Dr Vanvossel Alain European Commission DG RTD Belgium Dr Villarroel Álvaro Universidad del País Vasco Spain Prof. Wagemaker Gerard Erasmus University Medical Centre The Netherlands Dr Zambruno Giovanna Istituto Dermopatico dell'Immacolata Italy Prof. Zeman Jirí Charles University Czech Republic

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Annex 15: Eurordis Position Paper on FP7

EURORDIS Position Paper on the Research Priorities for the 7th Framework Programme

Eurordis – the European Organisation for Rare Diseases – is a patient-driven pan-European network of more than 220 rare disease organisations from 23 countries (15 of which are EU member states). On behalf of the 30 millions patients affected by rare diseases in the enlarged Europe, Eurordis would like to put forward some priorities for the Seventh Framework Programme of Research. This position paper is based on the policy work performed by the Working Group nominated by the French Health Ministry to develop proposals for research in the framework of the French Rare Disease Plan 2005-2008. This group, composed of clinicians and scientists working in the field of rare diseases, policy makers, and rare disease patient representatives, was coordinated by the Institut des Maladies Rares; Eurordis was one of its members. The paper has been further developed based on Eurordis advocacy work between 2002 and 2004, on the recent DG Research consultation on FP7 and on the experience gained through the participation of Eurordis as an Observer in the E-rare project, and Era-net involving the French, Spanish and German public partners funding rare disease research; this paper doesn’t represent their views. This document was finalised through consultation with the 25 patient organisation representatives involved in the Eurordis European Public Affairs Committee, representing a broad range of rare diseases and EU Member States.

Lisbon Strategy, competitiveness and employment

At the UNICE Competitiveness Day, on 9 December 2004, Commissioner for Enterprise and Industry, M. Verheugen, underlined once again the importance of innovation for the promotion of the Lisbon Strategy. “Innovation can be encouraged in a number of ways. Europe must find a way in which education and research can be brought to the forefront of our society again. Research and Development is possibly the most important vehicle of innovation. We find that differences in R&D expenditure explain much of the innovation gap between Europe and the US. So it is in this area that the Lisbon project needs new impulses and therefore the target set out in the Strategy of spending 3% of our GDP on research and development deserves our full commitment”. In this context, it is of fundamental importance not to underestimate the potential of new technologies developed in the Health sector, such as biotechnology and nanotechnologies, to increase European competitiveness, foster employment and support the research-driven SMEs.

Specificities of Rare Diseases

Due to the great number of rare diseases, their low prevalence (less than 1/2000) and their heterogeneity, rare diseases represent by definition an area of research that has to be developed at the European level, rather than in isolation within single laboratories scattered throughout the EU. As it is difficult at this stage to develop projects for each of the 5000 rare diseases, it is important to establish both horizontal cross-cutting platforms and vertical disease-specific projects, based on excellence, to be used as models for other rare or common diseases. It is

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therefore crucial to create European structures of excellence through networking and cooperation between laboratories. The selection process of projects funded through the EU Framework Programmes, based on the excellence of the objectives and methods, will raise the quality standards of European research. It is necessary to integrate European research teams in a pan-European space and develop a truly European culture for research. While in some areas huge networks of excellence and large integrated projects are possible, in the specific domain of rare diseases, competent European research groups (including SMEs) working on the same topic are few and can only be supported through other instruments, such as smaller size international projects. Research on rare diseases has proven to be very difficult as it often implies a multi-disciplinary approach, associating teams of clinical research, genetics, physiopathology, patient organisations, therapeutic, social and human scientists as well as the optimal use of technological platforms (such as sequencing platforms, facilities for transgenic animals and imaging, etc.). The status of research on rare diseases varies greatly according to the different pathologies. It is therefore fundamental to keep a global vision of all research fields in order to ensure rapid reactivity to the development of knowledge and technological tools. The organisation and financing of technological platforms go well beyond the framework of research on rare diseases. It is important to ensure their functioning and viability in the long run as technological platforms represent a strategic investment for the whole of R&D in Europe, and the basic tool to achieve concrete advances in the future.

Definition of six main strategic orientations for research on rare diseases

1. Descriptive and analytical epidemiology, natural history of the disease and clinical nosology.

This field of research has been insufficiently developed even though it constitutes the prerequisite of any therapeutic advance. It includes different aspects:

- The collection of information on rare diseases in terms of incidence, prevalence or distribution (age, sex, environment, etc…);

- The definition of new nosological entities through in-depth analysis, at clinical /genetic level, of apparently homogeneous diseases, also taking advantage of the huge source of information represented by patient organisations.

- The study of the natural history of the disease, of its risk factors, its severity and associated complications. The identification of factors that could explain various phenotypes, including the studies of genotype/phenotype correlation.

Actions to be undertaken:

- To facilitate the development of multidisciplinary networks associating clinicians, geneticians, epidemiologists, patients, relying on the centres of reference that are currently being established in some Member States.

- To facilitate the constitution of cohorts and observatories. - To facilitate the development of tools needed to implement these studies, in particular data

management tools for shared databases.

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2. Genetic and molecular characterisation Around 1200 genetic anomalies responsible for rare diseases have been identified. There are probably more than 4000 diseases for which the genetic characterisation remains to be done. It is of fundamental importance to pursue the efforts in this field in order to allow the development of diagnostic tests and to initiate pathophysiological studies of these diseases. Actions to be undertaken:

- To assemble sufficient collections of biological material corresponding to families and/or cohorts of patients, whose phenotypic characteristics have been correctly analysed. As was recently underlined during the Conference on Basic Research for Life Sciences (Brussels, 13 December 2004), the collection of data and high quality biological samples, as well as their storage and dissemination, are of fundamental importance at EU level, in particular concerning rare diseases.

- Mapping and cloning of the disease responsible genes. Identification of mutations. Detection of gene deletion or other anomalies of gene dosage.

3. Pathophysiology Even though much remains to be done, many genes involved in a large number of diseases have been identified in the last 15 years. However, a significant number of rare diseases (approximately 20%) are not of genetic origin. In all these cases, and more than for monogenic diseases, it is necessary to understand the mechanisms participating to the development of the disease and the phenotypes observed in the patients. This research mobilises different approaches common to all projects: establishment of pathological cell lines to be used as models, transcriptome, proteome, in vivo imaging, etc. Actions to be undertaken:

- The development of animal transgenic facilities. - The analysis of data from the transcriptome and proteome technology represents a major

challenge and should be supported. - The identification of the appropriate non-genetic markers, biological, functional etc., to be

used for diagnosis, and evaluation of disease progression. - The development of research on animal models different than mice should also be

encouraged. 4. The improvement of diagnostic performances In order to improve the timely care of people affected by rare diseases it is of fundamental importance to enhance the diagnostic performances in terms of delays, reliability and accessibility. This would also reduce the costs and human consequences associated with diagnostic delays. The development of new diagnostic tools, the transfer of knowledge from research development to clinical use, as well as the implementation and evaluation of new diagnostic methods, all these elements have to be taken into account. Advances are expected from new technologies, in particular from nanotechnologies, which offer opportunities for performing genetic and/or biological diagnostics. Actions to be undertaken:

- To support large-scale screening projects of gene mutation in order to develop diagnostic tools and diagnostic applications of nanotechnologies, where there is a demonstrated benefit for patients

- To support common projects with the industry and to facilitate the development of joint DG Research/ DG Enterprise projects.

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- To support projects aimed at developing evaluation methods for diagnostic tools: performances, clinical utility…

5. Therapeutic research The development of therapeutics for patients living with a rare disease is of course the ultimate objective, with a particular focus on children. The diversity of the pathological situations, associated with the lack of knowledge of the physiopathology of a great number of rare diseases and the relative lack of interest from the pharmaceutical industry, illustrate the complexity of research in this field, which entails a large variety of approaches. Four main sectors may be identified: a) Development of innovative devices aimed at alleviating or compensating disabilities linked with the disease; b) Development of Orphan Medicinal Products (OMP) including specific paediatric formulations; c) Cell therapy; d) Gene therapy. Actions to be undertaken:

- To facilitate the establishment of partnerships with various technological fields for the development of symptomatic treatments.

- To support projects aimed at searching for chemical molecules potentially interesting in the treatment of rare diseases, following two approaches: on the one hand high output molecular screening; on the other hand research of therapeutic molecules based on physiopathological knowledge of the diseases.

- To support projects on cell and gene therapy in view of application to rare diseases; - To develop projects of pre-clinical therapeutic research and proof of concept studies,

which are specifically relevant to orphan drugs and rare diseases: animal models, including large animals

- To develop joint DG Research/DG Enterprise/EMEA projects for funding designated orphan drugs at early stage of clinical development.

- Specific actions should be undertaken aimed at developing orphan medicinal products for indications, which include the paediatric population.

6. Research in social and human sciences

Few research teams work in the area of Social and Human Sciences (SHS) in the field of health, and even fewer on rare diseases. It seems important to mobilise specialists in the following disciplines: sociology, economy, anthropology, history of sciences, law and public health. Several lines of research could be privileged, such as: a) Society and rare diseases: social perception and representations, problems of accessibility to care - notably concerning underprivileged populations - economic evaluation and equity; b) rare diseases, research and innovation: public/private scientific cooperation, the role of patients organisations; c) care practices, the day-to-day experience of the disease: self-managed medical care, family implication, health education policy, evaluation of techniques and organisation methods; d) Public health and rare diseases: research policies, health care policies, prospective public health policies. Research conducted in these fields should not only be descriptive but also analytic, and aimed at measuring various parameters related to the progress of EU research on rare diseases, such as: evaluation of the efficacy of incentives to attract scientists and research laboratories in the field of rare diseases, and to stimulate the interest of the pharmaceutical industry in the development of projects on orphan drugs. The results obtained from these studies would offer important clues for evaluating the middle and long-term efficacy of the research strategies chosen by the EU.

Actions to be undertaken:

- To support research projects in the above-mentioned fields of SHS.

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- To attract young researchers in SHS towards these themes by clearly showing willingness to support research projects, including funding of scholarships.

Importance of concerted actions in the field of research on rare diseases

The specificities of research on rare diseases justify a concerted action between different

national policies of financing and management, in order to optimise the use of funding,

infrastructures and technological platforms, as well as the coordination of the participants.

The objectives identified are the following ones:

• To ensure a global vision and a strategic coordinated reflection in the field of research on rare diseases.

• To facilitate the development of a European Policy of research on rare diseases. • To stimulate new programmes of multidisciplinary research and encourage new teams to

become involved in research on rare diseases. • To attract young researchers towards this field of research. • To ensure that different departments and institutions involved in research do work together in

a concerted way in order to coordinate relevant activities and programmes, avoiding duplications.

• To ensure high reactivity towards new scientific and technological developments. • To guarantee a sufficient visibility with patients, researchers and health professionals. • To facilitate the industrial developments of results from research in the fields of diagnostics

and therapeutics. • To disseminate new knowledge acquired from research by implementing training and

information for the scientific community, the health professionals and the patients.

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Annex 16: D2.5 comments received from the participants

Content

� Too many transversal topics, not enough information on specific rare diseases

� Always the same rare diseases mentioned � Repetitions in presentations � Lack of comparative information on treatments and cares costs between

member states. � Lack of samples of campaigns aimed at increasing authorities and public

health experts’ awareness. � More parallel sessions. � Poor interest of poster session. � Conference rhythm too fast. � Poor quality of the programme. Repetition of Evry 2003 conference. Not

much progress since? � Less speakers and more time for each. Too superficial approach on the

subjects. � Impact of rare diseases on health economy (health economic implications of

rare diseases, pricing and reimbursement of orphan medicines in Europe). � Plan a joint session with EPPOSI/EGAN � Allow reference centres to present their function in detail. � More time for industry to express itself on research.

Speakers / chairpersons

� Chairmen didn’t respect allowed time to speakers to the detriment of discussions.

� Some speakers out of subject. � Choose chairmen not because of their notoriety or their expertise but

because of their ability to moderate a discussion, or train them � No panel animations but panel discussions limited to the very individual

presentation of each panellist. � Some speakers too fast, interpretation stopped. � A lot of unreadable slides.

Attendance

� Involve more politicians of European stature and industry representatives from “Big Pharma top 20”

� Allow public questions in all interpreted languages � Under-representation of social and educational workers � Lack of Member States’ representatives. � Lack of new member states representatives

Organisation

� Poor organisation of the conference and catering. � Poor registration process. � Room for improvement for registration and welcome staff. � Conference document should be more available and/or in electronic form, on

spot. � Plan a tourist visit. � Hotels could be nearer or inside the conference centre.

Centre of Conference

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� Inadequate sound volume. � Better welcoming staff (English) � Better conference centre localisation � Fresh drinking water available during all the conference. � Air-conditioning � Place posters in a better spot.

Others

� Use “person” instead of “patient”. � ECRD 2005 should be in Lille or Amsterdam

This report was produced by a contractor for Health & Consumer Protection Directorate General and represents the views of thecontractor or author. These views have not been adopted or in any way approved by the Commission and do not necessarilyrepresent the view of the Commission or the Directorate General for Health and Consumer Protection. The EuropeanCommission does not guarantee the accuracy of the data included in this study, nor does it accept responsibility for any use madethereof.