The patient experience in the development and implementation

of National Plans for Rare Diseases in France :

EURORDIS Membership Meeting Amsterdam, May 14, 2011

www.eurordis.org

Christel NourissierEURORDIS General Secretary

& Member of the EU Comittee of Experts on Rare DiseasesEUROPLAN advisor

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Painful years of hard work might now look like a success story…

• Our 5 guiding principles are :

• 1- No policy without us

2- Not one single patient should be denied access to diagnosis and to an expert centre

3- Make the best use of our biological and clinical data

- 4- Patients need innovation: coordinate, fund research

• 5- The French Plans must give a message of hope not only in France, but all over Europe and the world

Amsterdam, May 14, 2011

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1. No policy without us

• The achievement of pioneer patient organisations: French associations against neuromuscular dystrophies (AFM-

Telethon), cystic fibrosis (Vaincre la Mucoviscidose), haemophilia, metabolic diseases, and some much smaller ones have established the first networks of specialised centres and the first databases in France.

• They supported the creation of EURORDIS in 1997, and Alliance Maladies Rares in 2000: larger and smaller patients groups discussing at equal level, identifying similar needs, and speaking with one voice

• Working in the same place, unique in Europe : the Plateforme Maladies Rares in Paris, hosting more than 250 meetings each year, together with Orphanet, Maladies Rares Info Service, and GIS Institut des Maladies Rares,

Amsterdam, May 14, 2011

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1. No policy without us (II)

Patient groups made rare diseases a priority in the public health law (2004), renewed under the French EU presidency (2008)

They advocated with all stakeholders to obtain the first national Plan for rare diseases in Europe (2005-2008)

And the second national Plan (2011-2014), during 18 months.

Impact on the governance and monitoring of the Plans:

• Active participation of patient representatives in the preparatory working groups, the drafting of the Plans, the monitoring, the evaluation, and all decision processes: designation and evaluation of expert centres, of registries…

• Also in the training of health professionals, the ethics committees, the regional conferences, the regional desks for people with disabilities, the managing bodies of public and private health services

• With very limited human resources, mostly volunteer work

Amsterdam, May 14 2011

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2. Not one single patient living with a rare disease should be denied

access to diagnosis and care at an expert centre

• The process: 1st plan: designation of 132 centres of reference at National level and 500 centres of competence, based on existing skills, taking into consideration the voice of patient representatives. Ex: designation of a centre for psychiatric symptoms, rare epilepsy, or dental problems linked to rare diseases

• Objective of the 2nd plan: organisation of vertical networks of expert centres regrouping diseases within comprehensive healthcare pathways, from diagnosis laboratories to medical and social care. The challenge: to regroup diseases such as metabolic, neuromuscular, endocrinal, cardiovascular, dermatological, sensory,…and all others?

• Networks to take charge of referral of DNA, biological samples and patients abroad for diagnosis and care if necessary

• A model for future European reference networks to cover all

• rare diseases?

Amsterdam, May 14, 2011

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3. Collect and make the best use of our clinical data, DNA, and biological samples

• Ongoing coding and classification of our diseases by Orphanet, pilot experience of traceability in hospitals, to make them visible in the health care system

• 2nd Plan: a minimum data set of all patients will be collected in the National data bank on rare diseases, which will support the collection of data by expert centres, develop the interoperability of the various systems of data collection• Establishment and follow up of cohorts for clinical trials funded by the

National suscription for economic growth

• Organisation of storage and exchange of biological samples, in the framework of BBMRI (European Biobanking and Biomolecular Resources Research Infrastructure). Quality control at National and European level

Amsterdam, May 14, 2011

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4. Patients need innovation : coordinate and fund research

• Creation of a Foundation for scientific co-operation on rare diseases and orphan drugs, supported by Universities, INSERM, bringing together public and private funds, and linking:

• the National data bank,

• Orphanet, the leading international research database on RD

• Maladies Rares Recherche (former GIS Institut des Maladies Rares) : call for projects at National and European level (E-Rare) Access of researchers to technological platforms (high speed sequencing, CGH

array, animal models…..) Coordination, transversal actions Connection to industry, public/private partnerships, orientation, technical

support for clinical trials…

•

Amsterdam, May 14, 2011

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5. The French National Plans: A message of hope in an adverse economic context :

• A challenge to cover the social needs of the patients at school, at home, at work, with respite care, adapted housing, and the needs of carers with support and respite

• A challenge to access all available diagnosis and screening : no consensus on technologies, costs, innovations

• A challenge to reimburse medicinal products used off label, drugs without marketing autorisation, dietary complements, creams and bandages, special dental care, clothing (ex Xeroderma Pigmentosum, epidermiosa bullosa… )

• A challenge linked to the high prices of innovative drugs : access is currently broad and equitable ; orphan medicinal products costs are covered by the general budget of the Social Security at NATIONAL level, NOT by the budget of the hospitals where centres of reference are located. Patients are early diagnosed, and treated if referred to the centre of reference.

Amsterdam, May 14, 2011

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5. A strong message of hope for patients not only in France, but all over Europe and the world

• Development of diagnosis and care protocols can be shared

• Experimentation with other countries of new models to link expertise at national, and European level to provision of care and disability policies at regional level must be shared too : role of EUCERD

• The allocation of a 186 million € budget (86 million for new actions), plus 62,3 millions € for genotype/phenotype research in Necker hospital is a strong support to innovative policies

Amsterdam, May 14, 2011

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All stakeholders agree that National plans in France improve the situation of patients

Amsterdam, May 14, 2011