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Spanish Society of Neurology.
Rare Disease Registries
Javier Arpa
Madrid, March, 4th - 5th, 2013
Study Groups of SEN
Grupos de Trabajocoordinador-delegadoDr. Jerónimo Sancho Rieger.
Grupo de Estudio de Humanidades e Historia de la Neurología
Grupo de Estudio de Epilepsia
Grupo de Estudio de la Neurología del Trabajo
Grupo de Estudio de Cefaleas
Grupo de Estudio de Enfermedades Desmielinizantes
Grupo de Estudio de Enfermedades Neuromusculares
Grupo de Estudio de los Trastornos del Movimiento
Grupo de Estudio de Enfermedades Cerebrovasculares
Grupo de Estudio de Neuroepidemiología
Grupo de Estudio de Conducta y Demencias
Grupo de Estudio de Neurogeriatría
Grupo de Estudio de Trastornos de la Vigilia y el Sueño
Grupo de Estudio de Neurogenética
Grupo de Estudio de Gestión y Asistencia Neurológica
Grupo de Estudio sobre Dolor Neuropático
Grupo de Estudio de Neuroquímica y Neurofarmacología
Grupo de Estudio de Neuroncología
Grupo de Estudio de Neuroimagen
Grupo de Estudio de Neuro-oftalmología
Grupo de Estudio de Neurología Crítica e Intensivista
Comisión de Estudio de Ataxias y Paraparesias Espásticas Degenerativas (CEAPED)
Committee of Rare Diseases of SEN
Coordinator: Dr. Mª Carmen Calles Hernández
Members: Dr. Javier Arpa Gutiérrez Dr. Samuel Ignacio Pascual Pascual Dr. Pedro José García Ruiz-Espiga
ISSUES: 1.- Improve recognition of RD by Neurologists 2.- Impel creating Reference Centers in RD 3.- Improve information channels for Neurologists 4.- Improve the level of participation of SEN in other
National or International Research Organizations in RD like CIBERER
5.- Strengthen the Spanish RD registries of the Institute Carlos III
6.- Boost database of genetic mutation in RD
Joint Societies of SEN
Sociedades adheridas
Club Español de Neuropatología
Club EMG
Sociedad Española de Enfermería Neurológica SEDENE
SONES
Sociedad Española de Neuro-rehabilitación
CEAPED
Study Commission of Degenerative Ataxia and Spastic Paraparesis
2011
Coordinator: Dr. F.Javier Arpa Gutiérrez
Secretary: Mª José Abenza Abildúa
Members:
Dr. Samuel I. Pascual Pascual
Dr. Francisco Javier Rodríguez de
Rivera Garrido
Board of Directors
CEAPED Minutes(23/NOV/2012)
The elaboration of a Map of the Spanish Health Care with regard to Degenerative Ataxia and Spastic Paraparesis was agreed. A survey will carried out directed to all the members of SEN.
Participate in clinical trial at home and abroad. It is agreed to carry out a training course in Degenerative Ataxia
and Spastic Paraparesis during 2013 (Villagarcía de Campos, on June 2013).
Collaboration with other Study Groups of SEN (Genetics, Neuromuscular, Movement Disorders, General Neurology...), NEUROGENES Association, and other Medicine Specialities.
It is considered fundamental to maintain a close collaboration with CIBERER and CIBERNED. Translational Research.
Collaboration with European Groups of Hereditary Ataxias and Paraplegias and other International groups. RIBERMOV. EFACTS.
REDAPED (Spanish Registry of Degenerative Ataxias and Spastic Paraparesis).
Collaboration Agreement between ISCIII and SEN for the Development of Activities Related with the RDR within the activity field of SEN.
It was emphasized the significance of relationships with the Associations of Patients and their Relatives.
Hereditary ataxias and paraplegias
Designated CSUR (Reference Units)
Autonomous Region
Hospital U. La Fe Region Valenciana
Hospital U. La Paz Madrid
Hospitalario U. Marqués de Valdecilla
Cantabria
Hospital Clínico y Provincial de Barcelona
Cataluña
Hospital San Juan de Dios (Designated for children’s patients only)
Cataluña
Spanish Registry of Degenerative Ataxia and Spastic Paraparesis
(REDAPED)
1Hospital Universitario La Paz, Madrid; 2Hospital Universitario La Fe, Valencia; 3Hospital Josep Trueta, Girona; 4Institute Germans Trias i Pujol, Barcelona; 5Hospital Clinic, Barcelona; 6Hospital Sant Joan de Déu, Barcelona; 7Fundación Gallega de Medicina Genómica, Santiago de Compostela; 8Instituto Universitario Dexeus; 9Institut d'Investigació Biomèdica de Bellvitge, Barcelona; 10IIER
Arpa Gutiérrez, F.J.1; Bataller L.2; Genís Batlle D.3; Matilla Dueñas A.4; Muñoz J.E.5; O´Callaghan M.D.M.6; Pascual Pascual S.I.1; Quintáns Castro B.7; Sanz Gallego I.1; Serrano Munuera M.C.8; Sobrido Gómez M.J.7; Volpini Bertrán V.9; Posada M.10
Madrid, July 30, 2012
REDAPEDI. Promoters: Study Commission of Degenerative Ataxia
and Spastic Paraparesis (CEAPED) of the Spanish Society of Neurology (SEN)
Institute of Rare Diseases Research (IIER), Institute of Health Carlos III (ISCIII), Madrid.
II. Scientific Committee: IIER (Manuel Posada de La Paz) SEN (F. Javier Arpa Gutiérrez) SENEP (Samuel Ignacio Pascual Pascual) NEUROGENES (Antoni Matilla Dueñas)
REDAPEDBACKGROUND. The Registry REDAPED will work in the context of
developing a comprehensive approach to health care for the Degenerative Ataxia and Spastic Paraparesis. It will include multidisciplinary activities to preserve the health, to maximize functional recovery and improve the quality of life of patients.
The prevalence of ataxias is variable and as soon as well-known, although it is assumed that it is fewer than 1 case per 1,000 population. In our experience it is 13.4/100,000 population (Aguilar-Amat et al, not published data).
The prevalence of HSPs has been considered between 1.27 and 9.6 per 100,000 population (Polo et al, 1991; Berciano et al, 2002; Fink, 2006, 2009).
REDAPEDWORK PLAN. The recruitment will be continuous. It is scheduled to carry out one inclusion visit and annual
monitoring visit. Data from other visits are also recorded when the patient
attends the hospital for reasons of disease’s impairment, complications or if the neurologist considers that it is necessary from the clinical point of view.
OBJECTIVES (I): Main objective: The main objective of this project
consists in characterizing the patients with degenerative ataxias and spastic paraparesis on the basis of a minimum, specific and homogeneous collection of clinical and genetic data and recording it in an only REGISTRY pertaining to the Spanish Country.
REDAPEDOBJECTIVES (II): Secondary objectives:
The present research project will develop a network that comprise to many Spanish hospitals to recruit the greater number of patients with degenerative ataxia and spastic paraparesis clinically and, if it is possible, genetically defined.
The characterization of the patients will be supported on scales of clinical assessment, structural image, electrophysiology, cardiological evaluations and hematological data with the purpose of setting up the more extensive and better characterized collection of patients. These data will represent a great contribution to the knowledge of the natural history of the degenerative ataxias and spastic paraparesis.
A network will be created for these patients directed to provide them the information and to facilitate the contact with specialized neurological clinics.
Promote the multidisciplinary research excellence in ataxias and paraparesis.
Promote training on the study of the ataxias and paraparesis.
REDAPEDMETHODS (I). 1. Collection of data and information sources:
Clinical history and documents derived from this (case report form, databases previously elaborated by each one of the research groups, etc.).
The inclusion of genetic data will originate in the information of the genetics units / departments / institutes.
The data collection are comprised in a minimum set of data 2. Study population:
Degenerative Ataxias and Spastic Paraparesis Patients. It is planned to include around 10,000 patients in Spain.
3. Inclusion/exclusion criteria and withdrawal…
REDAPEDMETHODS (II). 4. Operational definition of variables (I):
Variables and information that will be collected in the Inclusion Visit: 1. Demographic data:
Gender Date of birth Ethnic group Birthplace Father birthplace Mother birthplace
2. Clinical history of Degenerative Ataxia or Spastic Paraparesis: Start date of disease Date of confirmed diagnosis Degenerative Ataxia or Spastic Paraparesis Type at Diagnosis Functional systems affected by the disease (cerebellar, pyramidal, brain
stem, sensory, sphincter, visual, auditory and mental) Genetics Concomitant diseases SARA scores at baseline (ataxias) and SPRS scores at baseline (Spastic
Paraparesis).
REDAPED
METHODS (III). 4. Operational definition of variables (II):
Variables and information that will be collected in the follow-up Visits: Visit date. Degenerative Ataxia or Spastic Paraparesis Type
according to the evolution Functional systems affected by the disease (cerebellar,
pyramidal, brain stem, sensory, sphincter, visual, auditory and mental)
New genetic data Concomitant diseases SARA scores at baseline (ataxias) and SPRS scores at
baseline (Spastic Paraparesis)
REDAPEDMETHODS (IV). 5. Planned sample size and the grounds for its
calculation. 6. Data management:
The regulations on the data management will be defined in the consortium agreement.
(SEN, IIER, SENEP, NEUROGENES y AEGH). The platform created for the RDR in ISCIII considers
the inclusion of massive data coming from AR (CCAA) and, at the same time, it will be able to include data coming from specific groups as CEAPED.
7. Data analysis. 8. Computer support:
The ISCIII platform guarantees the sustainability of the system and the associated legal issues.
SEN offers its resources to develop the design.
REDAPEDMETHODS (V). 9. Quality Assurance: The Scientific
Committee has as function the criteria management and the conflicts follow-up. Quality assurance should check the following standards:
a) Control of each included variableb) Validity of encoding c) Elaboration of indicators concerning contradictions between
the information of two combined variablesd) Process evaluatione) Control with external audits on the part of the own groupf) Analysis of the validity of the data The pertinent queries that assures the quality of
the data and the scientific accuracy of data collection in the electronic form software will be defined and implemented.
REDAPED ETHICAL ISSUES.1. Benefit-risk evaluation for those research subjects.2. Considerations about the information to patients and
family and informed consent (IC).3. Data Confidentiality.4. Interference with the doctor's prescribing habits. REGISTRY EXPLOITATION. PLANS FOR DISSEMINATION
OF RESULTS. By means of traditional forms of diffusion of information
whose copyright and signature models of publications will be captured in the consortium agreement
Elaboration of periodical reports in pdf format so that the different collaborating organizations in this project could spread basic information among their members
The way the different groups will be able to send data to European projects in course will be agreed.
All these points should be agreed and captured in the consortium agreement.
PROTOCOL AMENDMENTS.
REDAPEDPRACTICAL CONSIDERATIONS. 1. Follow-up information:
The promoters will send follow-up information to the Health Authorities with annual periodicity. They will be also notified any outstanding incidence occurring during the study (withdrawal, protocol amendments, etc.).
2. Diffusing results: The promoters are committed to publish the results of this
study in scientific journals.
ANNEXES Annex 1: Minimum Database of the Registry of
Degenerative Ataxia and Spastic Paraparesis (REDAPED). Annex 2: Informed Consent to the Patient. Annex 3: Form of Informed Consent. Annex 4: Classification of the Degenerative Ataxias. Annex 5: Classification of Hereditary Spastic or Familial
Spastic Paraparesis (HSP).
REDAPED
CONCLUSIONS: The main objective of the project REDAPED consists on
characterizing the patients with degenerative ataxias and spastic paraparesis.
The Registry REDAPED will contribute to develop the health care comprehensive approach of Ataxias and HSP, what include multidisciplinary interventions to preserve the health, to maximize the functional recovery and to improve the quality of life.
Full health care objectives will be achieved by means of continuous basic research, guided to understand the physiopathological mechanisms of Degenerative Ataxia and Spastic Paraparesis. REDAPED will promote these objectives.
REDAPED will promote the development of effective treatments to slow down, to stop, or even to revert the process of disease.
European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS)
Scientific and technological objectives:1. Comprehensively populate a European FRDA database,
linked to a bio bank.2. Define a panel of clinical assessment tools that can be
used to define outcomes for clinical trials and identify the multiple health problems that occur during the course of FRDA disease progression.
3. Build on the knowledge base of frataxin structure and function.
4. Build on the knowledge base of frataxin-related cellular homeostasis and the pathogenic cascade.
5. Build on the knowledge base of epigenetic mechanisms regulating frataxin silencing.
6. Develop new and improved cellular and animal models for the study of FRDA.
7. Identify novel FRDA biomarkers.8. Identify genetic modifiers of FRDA disease.9. Develop novel therapeutic strategies for treating FRDA.
European Friedreich’s Ataxia Consortium for Translational
Studies (EFACTS)
Summary The EFACTS project will work towards developing a
global approach to FRDA care that will include multidisciplinary interventions to preserve health, maximize functional recovery and improve quality of life. This will be achieved through continued basic research into understanding the mechanisms of FRDA pathology, the creation of a European registry for FRDA and the development of effective treatments to slow, stop or even reverse the disease process. This will be done in continuous collaboration with patients’ associations (national associations and Euroataxia), involving the constant dissemination and education of EFACTS progress, to ultimately facilitate patient access to specialized centers where they can get the best of care.
RECRUITMENT IN SPAIN
•Total 56 patients•8 patients 1 year follow-up visit
Andalucía6
Extremadura4
Castilla la Mancha4
Castilla y León3 Cataluña
1
Madrid31
Valencia3
Aragón 3
Galicia1
COLLABORATION AGREEMENT BETWEEN THE INSTITUTE OF HEALTH CARLOS III AND THE SPANISH SOCIETY OF NEUROLOGY FOR THE
DEVELOPMENT OF ACTIVITIES RELATED TO RARE DISEASES REGISTRIES WITHIN THE ACTIVITY
FIELD OF THIS SOCIETY
Madrid, April 2012
D. Joaquín Roberto Arenas Barbero, Institute of Health Carlos III Director and Dr. Jerónimo Sancho Rieger,
President of the Spanish Society of Neurology
FOLLOW-UP AGREEMENT COMISSION
On the part of SEN Dr. F. Javier Arpa Gutiérrez Dr. Samuel Ignacio Pascual Pascual Dr. Susana Fernández Gómez
On the part of ISCIII Dr. Manuel Posada Dr. Ignacio Abaitua
ISSUES (1/FEB/2013): Review of the agreement Analysis of the state of the work done in the
field of ataxia and spastic paraparesis so far
Conclusions Improve the recognition of RD by neurologists Improve the information channels for neurologists Elaboration of a Map of the Spanish Health Care in RD Participate in clinical trials at home and abroad. Training courses in RD Collaboration with other Study Groups of SEN (Genetics,
Neuromuscular, Movement Disorders, General Neurology...), NEUROGENES Association, and other Medicine Specialties.
It is considered fundamental to maintain a close collaboration with CIBERER and CIBERNED. Translational Research.
Collaboration with European Groups of Hereditary Ataxias and Paraplegias and other International Groups.
Strengthen the Spanish RD registries of the Institute Carlos III Promote future registries (Ch-M-T, Neuromuscular, Dystonia,
treatable RD) Contribute to impel the genetic mutation’s database in RD Go more deeply into the Collaboration Agreement between ISCIII
and SEN for the Development of Activities Related with the RDR within the activity field of SEN.
Emphasize the significance of relationships with the Associations of Patients and their Relatives.
Thank you for your attentionThank you for your attention