Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
- Conditions
- Friedreich's Ataxia
- Registration Number
- NCT02069509
- Lead Sponsor
- European Friedreich's Ataxia Consortium for Translational Studies
- Brief Summary
This is a multi-centre, multi-national, prospective, observational study of Friedreich's Ataxia (FRDA) with a control group to:
* obtain natural history data on individuals affected by FRDA
* relate clinical assessments and results from proteomic analyses
* expedite identification and recruitment of participants for clinical trials
* develop and validate sensitive and reliable outcome measures for detecting onset and change over the natural course of FRDA which may also be potential outcome measures for use in future clinical trials and clinical care
* plan for future research studies
- Detailed Description
The EFACTS patient registry integrates prospectively and systematically collected clinical research data (e.g. clinical tests, demographical characteristics) with access to biological specimens (e.g. blood, urine) obtained from individuals with genetically confirmed FRDA and unrelated control research participants.
The EFACTS patient registry started out as a 4-year study and is currently running without a set end date. Eligible subjects are assessed at annual study visits on the clinical symptoms and signs of the disease. At each study visit, general clinical, motor function, cognitive, and Quality of Life assessments are administered. In addition, participants are providing bio samples for the purposes of genetic testing and for research to identify valuable biomarkers of FRDA. Biological specimens and clinical data are made available to qualified scientists within the EFACTS network whose projects are reviewed and approved by the EFACTS Steering Committee. Research projects should aim to advance scientific knowledge towards establishing clinically effective treatments that delay onset and/or slow the progression of the disease.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 1200
- Genetic diagnosis of FRDA
- For control research participants: genetically confirmed absence of FRDA
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Disease progression as assessed by clinical examination Participants are followed with annual assessments
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (16)
Motol University Hospital, Centre for Hereditary Ataxias
🇨🇿Praha, Czechia
University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
🇩🇪Tübingen, Germany
Medical University Innsbruck, Department of Neurology
🇦🇹Innsbruck, Austria
Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology
🇧🇪Bruxelles, Belgium
Hôpital de Hautepierre, Service de Neurologie
🇫🇷Strasbourg, France
University Hospital Aachen, Dept. of Neurology
🇩🇪Aachen, Germany
Fondazione IRCCS Istituto Neurologico Carlo Besta
🇮🇹Milan, Italy
Hôpital Pitié Salpêtrière, Bâtiment ICM
🇫🇷Paris, France
University Hospital Bonn, Dept. of Neurology
🇩🇪Bonn, Germany
University of Munich, Dept. of Neurology, Friedrich-Baur-Institut
🇩🇪Munich, Germany
University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery
🇬🇧London, United Kingdom
National and Kapodistrian University of Athens, Neurogenetics Unit
🇬🇷Athens, Greece
Tallaght University Hospital, Department of Neurology
🇮🇪Dublin, Ireland
Bambino Gesù Children's Hospital, Department of Neurosciences
🇮🇹Roma, Italy
Hospital Sant Joan de Déu, Servicio de Neurología
🇪🇸Barcelona, Spain
Hospital Universitario La Paz, Servicio de Neurologia
🇪🇸Madrid, Spain