Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Launched by EUROPEAN FRIEDREICH'S ATAXIA CONSORTIUM FOR TRANSLATIONAL STUDIES · Feb 20, 2014
Trial Information
Current as of July 21, 2025
Unknown status
Keywords
ClinConnect Summary
The EFACTS trial is a study focused on understanding Friedreich's Ataxia (FRDA), a rare genetic condition that affects coordination and movement. This research is being conducted across multiple centers in Europe and aims to gather important information about how FRDA progresses over time. By observing both patients with FRDA and a control group without the condition, the study hopes to improve clinical assessments, develop reliable ways to measure changes in patients’ health, and help with future clinical trials.
To participate in this study, individuals must have a confirmed genetic diagnosis of FRDA. There’s also a need for control participants who have been genetically tested and do not have FRDA. Participants can expect to contribute to important research that could lead to better treatments and care for people with FRDA. The study is currently recruiting individuals of all ages and genders, making it an inclusive opportunity for those affected by this condition.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Genetic diagnosis of FRDA
- • For control research participants: genetically confirmed absence of FRDA
About European Friedreich's Ataxia Consortium For Translational Studies
The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) is a collaborative initiative dedicated to advancing research and treatment options for Friedreich's Ataxia, a rare genetic disorder. Comprising leading academic institutions, healthcare professionals, and patient advocacy groups across Europe, EFACTS aims to facilitate innovative clinical trials and foster the development of new therapeutic strategies. By leveraging a multidisciplinary approach and promoting data sharing, the consortium seeks to enhance understanding of the disease mechanisms, improve patient outcomes, and accelerate the translation of scientific discoveries into clinical practice.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Paris, , France
Bruxelles, , Belgium
Milan, , Italy
Innsbruck, , Austria
Strasbourg, , France
Aachen, , Germany
Bonn, , Germany
Marburg, , Germany
Munich, , Germany
Tübingen, , Germany
Madrid, , Spain
London, , United Kingdom
Bruxelles, , Belgium
Praha, , Czechia
Paris, , France
Strasbourg, , France
Munich, , Germany
Athens, , Greece
Dublin, , Ireland
Roma, , Italy
Barcelona, , Spain
London, , United Kingdom
Patients applied
Trial Officials
Jörg B. Schulz, MD
Principal Investigator
University Hospital Aachen, Dept. of Neurology
Paola Giunti, MD
Principal Investigator
University College of London, Institute of Neurology
Caterina Mariotti, MD
Principal Investigator
Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Genetics of Neurodegenerative and Metabolic Diseases
Francisco J. Rodriguez de Rivera Garrido, MD
Principal Investigator
La Paz University Hospital, Universidad Autónoma de Madrid, Dept. of Neurology,
Alexandra Durr, MD
Principal Investigator
Hôpital Pitié Salpêtrière, ICM
Thomas Klopstock, MD
Principal Investigator
University of Munich, Dept. of Neurology with Friedrich-Baur-Institute
Sylvia Boesch, MD
Principal Investigator
Medical University Innsbruck, Department of Neurology
Gilles Naeije, MD
Principal Investigator
Université Libre de Bruxelles, Service de Neurologie
Ludger Schöls, MD
Principal Investigator
University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
Thomas Klockgether, MD
Principal Investigator
University Hospital Bonn, Dept. of Neurology
Georgios Koutsis, MD
Principal Investigator
National and Kapodistrian University of Athens, Neurogenetics Unit
Sinead Murphy, MD
Principal Investigator
Tallaght University Hospital, Department of Neurology
Richard Walsh, MD
Principal Investigator
Tallaght University Hospital, Department of Neurology
Enrico Bertini, MD
Principal Investigator
Bambino Gesù Children's Hospital, Department of Neurosciences
Francesc Palau Martinez, MD
Principal Investigator
Hospital Sant Joan de Déu, Servicio de Neurología
Martin Vyhnálek, MD
Principal Investigator
Motol University Hospital, Centre for Hereditary Ataxias
Mathieu Anheim, MD
Principal Investigator
Hôpital de Hautepierre, Service de Neurologie
Bart van de Warrenburg, MD
Principal Investigator
STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
Kathrin Reetz, MD
Principal Investigator
University Hospital Aachen, Dept. of Neurology
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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