Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
NCT ID: NCT02069509
Last Updated: 2025-10-03
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
1200 participants
OBSERVATIONAL
2010-05-31
2024-12-31
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
* 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
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
NCT07095062
Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia
NCT04346238
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
NCT05874388
The EUROSCA Natural History Study
NCT02440763
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
NCT02316314
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
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.
The EFACTS study will now be converted to a globally harmonized version of the protocol. Data from Europe will continue to be stored in a European database maintained by FARA Europe. While this is a continuation of the study for current patients, the project will be given the new study title UNIFAI to reflect the inclusion of new global sites.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Control research participants
Controls may be family members or recruited elsewhere, heterozygous GAA expansion carriers are allowed
No interventions assigned to this group
FRDA patients
with genetically confirmed diagnosis of FRDA
No interventions assigned to this group
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
European Friedreich's Ataxia Consortium for Translational Studies
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Jörg B. Schulz, MD
Role: PRINCIPAL_INVESTIGATOR
University Hospital Aachen, Dept. of Neurology
Paola Giunti, MD
Role: PRINCIPAL_INVESTIGATOR
University College of London, Institute of Neurology
Caterina Mariotti, MD
Role: PRINCIPAL_INVESTIGATOR
Fondazione IRCCS Istituto Neurologico Carlo Besta
Francisco J. Rodriguez de Rivera Garrido, MD
Role: PRINCIPAL_INVESTIGATOR
La Paz University Hospital, Dept. of Neurology
Alexandra Durr, MD
Role: PRINCIPAL_INVESTIGATOR
Hôpital Pitié Salpêtrière, ICM
Thomas Klopstock, MD
Role: PRINCIPAL_INVESTIGATOR
University of Munich, Dept. of Neurology with Friedrich-Baur-Institute
Sylvia Boesch, MD
Role: PRINCIPAL_INVESTIGATOR
Medical University Innsbruck, Department of Neurology
Gilles Naeije, MD
Role: PRINCIPAL_INVESTIGATOR
Université Libre de Bruxelles and Cliniques Universitaires de Bruxelles-Hôpital Erasme
Ludger Schöls, MD
Role: PRINCIPAL_INVESTIGATOR
University of Tübingen, Dept. of Neurology with Hertie-Institute for Clinical Brain Research
Thomas Klockgether, MD
Role: PRINCIPAL_INVESTIGATOR
University Hospital Bonn, Dept. of Neurology
Georgios Koutsis, MD
Role: PRINCIPAL_INVESTIGATOR
National and Kapodistrian University of Athens, Neurogenetics Unit
Sinead Murphy, MD
Role: PRINCIPAL_INVESTIGATOR
Tallaght University Hospital, Department of Neurology
Richard Walsh, MD
Role: PRINCIPAL_INVESTIGATOR
Tallaght University Hospital, Department of Neurology
Enrico Bertini, MD
Role: PRINCIPAL_INVESTIGATOR
Bambino Gesù Children's Hospital, Department of Neurosciences
Francesc Palau Martinez, MD
Role: PRINCIPAL_INVESTIGATOR
Hospital Sant Joan de Déu, Servicio de Neurología
Martin Vyhnálek, MD
Role: PRINCIPAL_INVESTIGATOR
Motol University Hospital, Centre for Hereditary Ataxias
Mathieu Anheim, MD
Role: PRINCIPAL_INVESTIGATOR
Hôpital de Hautepierre, Service de Neurologie
Bart van de Warrenburg, MD
Role: PRINCIPAL_INVESTIGATOR
STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
Kathrin Reetz, MD
Role: PRINCIPAL_INVESTIGATOR
University Hospital Aachen, Dept. of Neurology
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Medical University Innsbruck, Department of Neurology
Innsbruck, , Austria
Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology
Brussels, , Belgium
Motol University Hospital, Centre for Hereditary Ataxias
Prague, , Czechia
Hôpital Pitié Salpêtrière, Bâtiment ICM
Paris, , France
Hôpital de Hautepierre, Service de Neurologie
Strasbourg, , France
University Hospital Aachen, Dept. of Neurology
Aachen, , Germany
University Hospital Bonn, Dept. of Neurology
Bonn, , Germany
University of Munich, Dept. of Neurology, Friedrich-Baur-Institut
Munich, , Germany
University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
Tübingen, , Germany
National and Kapodistrian University of Athens, Neurogenetics Unit
Athens, , Greece
Tallaght University Hospital, Department of Neurology
Dublin, , Ireland
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, , Italy
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
University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery
London, , United Kingdom
Countries
Review the countries where the study has at least one active or historical site.
References
Explore related publications, articles, or registry entries linked to this study.
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schols L, Giordano IA, Klockgether T, Burk K, Pandolfo M, Schulz JB. Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Lancet Neurol. 2015 Feb;14(2):174-82. doi: 10.1016/S1474-4422(14)70321-7. Epub 2015 Jan 5.
Buchholz M, Pfaff M, Iskandar A, Reetz K, Schulz JB, Grobe-Einsler M, Klockgether T, Michalowsky B; EFACTS Study Group. Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension. Neurol Ther. 2025 Feb;14(1):379-398. doi: 10.1007/s40120-024-00694-7. Epub 2024 Dec 30.
Indelicato E, Reetz K, Maier S, Nachbauer W, Amprosi M, Giunti P, Mariotti C, Durr A, de Rivera Garrido FJR, Klopstock T, Schols L, Klockgether T, Burk K, Pandolfo M, Didszun C, Grobe-Einsler M, Nanetti L, Nenning L, Kiechl S, Dichtl W, Ulmer H, Schulz JB, Boesch S; European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study. Mov Disord. 2024 Mar;39(3):510-518. doi: 10.1002/mds.29687. Epub 2023 Dec 23.
Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodriguez de Rivera Garrido FJ, Rummey C, Schols L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol. 2021 May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2. Epub 2021 Mar 23.
Indelicato E, Nachbauer W, Eigentler A, Amprosi M, Matteucci Gothe R, Giunti P, Mariotti C, Arpa J, Durr A, Klopstock T, Schols L, Giordano I, Burk K, Pandolfo M, Didszdun C, Schulz JB, Boesch S; EFACTS (European Friedreich's Ataxia Consortium for Translational Studies). Onset features and time to diagnosis in Friedreich's Ataxia. Orphanet J Rare Dis. 2020 Aug 3;15(1):198. doi: 10.1186/s13023-020-01475-9.
Bonnechere B, Jansen B, Haack I, Omelina L, Feipel V, Van Sint Jan S, Pandolfo M. Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises. J Neuroeng Rehabil. 2018 Oct 4;15(1):87. doi: 10.1186/s12984-018-0430-7.
Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodriguez de Rivera Garrido FJ, Schols L, Giordano I, Burk K, Pandolfo M, Schulz JB; EFACTS Study Group. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Neurology. 2018 Sep 4;91(10):e917-e930. doi: 10.1212/WNL.0000000000006121. Epub 2018 Aug 10.
Tanguy Melac A, Mariotti C, Filipovic Pierucci A, Giunti P, Arpa J, Boesch S, Klopstock T, Muller Vom Hagen J, Klockgether T, Burk K, Schulz JB, Reetz K, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS group. Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964. Epub 2017 Dec 26.
Lad M, Parkinson MH, Rai M, Pandolfo M, Bogdanova-Mihaylova P, Walsh RA, Murphy S, Emmanuel A, Panicker J, Giunti P. Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia. Orphanet J Rare Dis. 2017 Sep 26;12(1):158. doi: 10.1186/s13023-017-0709-y.
Reetz K, Dogan I, Hilgers RD, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, de Rivera FJR, Schols L, Klockgether T, Burk K, Rai M, Pandolfo M, Schulz JB; EFACTS Study Group. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol. 2016 Dec;15(13):1346-1354. doi: 10.1016/S1474-4422(16)30287-3.
Related Links
Access external resources that provide additional context or updates about the study.
EFACTS Registry
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
HEALTH-F2-2010- 242193
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.