Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

France
Germany
Italy
Greece
Spain
RISCA
Prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6 (SCA1, SC2, SCA3, SCA6)

Project Coordinator

University Hospital Bonn Department of Neurology
Bonn
Germany

Partners

Alexandra Dürr Hôpital de la Pitié-Salpêtrière ISERM U679 Department of Genetics Paris, France
Caterina Mariotti Fondazione IRCCS- Instituto Neurologico Carlo Besta Division of Biochemistry and Genetics Milano, Italy
Frédéric Rieux-Laucat ISERM Unit 768 Hôpital Necker Paris, France
Jörg Schulz University of Göttingen Department of Neurodegeneration and Restorative Research Göttingen, Germany
José Berciano University Hospital Marqués de Valdecilla Department of Neurology Santander, Spain
Lufger Schöls University of Tübingen Department of Neurology and Hertie-Institute for Clinical Brain Research Tübingen, Germany
Michael O. Glocker Proteome Center Rostock Institute of Immunology Rostock, Germany
Olaf Riess University of Tübingen Department of Medical Genetics Tübingen, Germany
Sophie Tezenas du Montcel University Pierre et Marie Curie EA 3974 Modeling Clinical Research Paris, France

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of autosomal dominantly inherited progressive ataxia disorders. It is estimated that there are 30,000 individuals in the European Community that directly descend from individuals affected by a SCA disorder and thus carry a 50% risk of having inherited an SCA mutation. These at risk individuals provide a unique research opportunity to prospectively study the presymptomatic phase of SCA disorders and to identify early signs that herald the onset of the illness. This information is of critical importance for the development of future therapeutic interventions aimed at postponing the clinical onset of ataxia. We therefore propose to perform a prospective observational study of individuals at risk for the most common SCA disorders, SCA1, SCA2, SCA3 and SCA6 (RISCA). It is our aim to answer the following questions: (1) Which clinical signs precede the onset of manifest ataxia in SCA1, SCA2, SCA3 and SCA6? (2) What are the prevalence and incidence of preceding signs? (3) Are the prevalence and incidence of preceding signs affected by genotype, gender, age, estimated time until disease manifestation and repeat length? (4) What is the incidence of disease manifestation in mutation carriers? (5) Does the presence of certain preceding signs predict the manifestation of ataxia ? (6) Are there MRI alterations that precede the onset of ataxia? It is planned to enroll 480 probands and to follow them at 12 month intervals over two years. At each visit, probands are asked in a structured interview for a number of predefined clinical signs that potentially precede the onset of ataxia. In addition, the following self-assessment scales will be applied: Pittsburgh Sleep Quality Index (PSQI), International Restless Legs Severity Scale (IRLS), Patient´s Health Questionnaire (PHQ-9). All study participants will undergo a physical examination including the Scale for the Assessment and Rating of Ataxia (SARA). Study participants will further perform the SCA Functional Composite (SCA-FC) which is a comprehensive measure of functional capacity based on results in quantitative tests related to gait (8m timed walk), speech (PATA rate) and hand function (9 hole pegboard). In a subset of study participants, we will record eye movements and obtain volumetric MRIs.RISCA will be conducted by partners that already collaborate in the EUROSCA project.

E-Rare 2012 - Created by Toussaint Biger