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This is a multi-centre, multi-national, prospective, observational study of Friedreich's Ataxia (FRDA) with a control group to:
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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Control research participants | Controls may be family members or recruited elsewhere, heterozygous GAA expansion carriers are allowed | ||
| FRDA patients | with genetically confirmed diagnosis of FRDA |
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| Measure | Description | Time Frame |
|---|---|---|
| Disease progression as assessed by clinical examination | Participants are followed with annual assessments |
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| Measure | Description | Time Frame |
|---|---|---|
| Transition to UNIFAI | 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. | 2010-2024 |
Inclusion Criteria:
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Individuals with a genetically confirmed diagnosis of FRDA and control research participants.
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| Name | Affiliation | Role |
|---|---|---|
| Jörg B. Schulz, MD | University Hospital Aachen, Dept. of Neurology | Principal Investigator |
| Paola Giunti, MD | University College of London, Institute of Neurology | Principal Investigator |
| Caterina Mariotti, MD | Fondazione IRCCS Istituto Neurologico Carlo Besta | Principal Investigator |
| Francisco J. Rodriguez de Rivera Garrido, MD | La Paz University Hospital, Dept. of Neurology | Principal Investigator |
| Alexandra Durr, MD | Hôpital Pitié Salpêtrière, ICM | Principal Investigator |
| Thomas Klopstock, MD | University of Munich, Dept. of Neurology with Friedrich-Baur-Institute | Principal Investigator |
| Sylvia Boesch, MD | Medical University Innsbruck, Department of Neurology | Principal Investigator |
| Gilles Naeije, MD | Université Libre de Bruxelles and Cliniques Universitaires de Bruxelles-Hôpital Erasme | Principal Investigator |
| Ludger Schöls, MD | University of Tübingen, Dept. of Neurology with Hertie-Institute for Clinical Brain Research |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Medical University Innsbruck, Department of Neurology | Innsbruck | 6020 | Austria | |||
| Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25566998 | Background | 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. | |
| 39738982 |
| Label | URL |
|---|---|
| EFACTS Registry | View source |
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whole blood, urine, centrifugate of serum, EDTA, citrate blood
| Principal Investigator |
| Thomas Klockgether, MD | University Hospital Bonn, Dept. of Neurology | Principal Investigator |
| Georgios Koutsis, MD | National and Kapodistrian University of Athens, Neurogenetics Unit | Principal Investigator |
| Sinead Murphy, MD | Tallaght University Hospital, Department of Neurology | Principal Investigator |
| Richard Walsh, MD | Tallaght University Hospital, Department of Neurology | Principal Investigator |
| Enrico Bertini, MD | Bambino Gesù Children's Hospital, Department of Neurosciences | Principal Investigator |
| Francesc Palau Martinez, MD | Hospital Sant Joan de Déu, Servicio de Neurología | Principal Investigator |
| Martin Vyhnálek, MD | Motol University Hospital, Centre for Hereditary Ataxias | Principal Investigator |
| Mathieu Anheim, MD | Hôpital de Hautepierre, Service de Neurologie | Principal Investigator |
| Bart van de Warrenburg, MD | STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM | Principal Investigator |
| Kathrin Reetz, MD | University Hospital Aachen, Dept. of Neurology | Principal Investigator |
| Brussels |
| 1070 |
| Belgium |
| Motol University Hospital, Centre for Hereditary Ataxias | Prague | 150 06 | Czechia |
| Hôpital Pitié Salpêtrière, Bâtiment ICM | Paris | 75013 | France |
| Hôpital de Hautepierre, Service de Neurologie | Strasbourg | 67098 | France |
| University Hospital Aachen, Dept. of Neurology | Aachen | 52074 | Germany |
| University Hospital Bonn, Dept. of Neurology | Bonn | 53105 | Germany |
| University of Munich, Dept. of Neurology, Friedrich-Baur-Institut | Munich | 80336 | Germany |
| University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research | Tübingen | 72076 | Germany |
| National and Kapodistrian University of Athens, Neurogenetics Unit | Athens | 11528 | Greece |
| Tallaght University Hospital, Department of Neurology | Dublin | D24 TP66 | Ireland |
| Fondazione IRCCS Istituto Neurologico Carlo Besta | Milan | 20133 | Italy |
| Bambino Gesù Children's Hospital, Department of Neurosciences | Roma | 00146 | Italy |
| Hospital Sant Joan de Déu, Servicio de Neurología | Barcelona | 08950 | Spain |
| Hospital Universitario La Paz, Servicio de Neurologia | Madrid | 28046 | Spain |
| University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery | London | WC1N 3 BG | United Kingdom |
| Derived |
| 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. |
| 38140802 | Derived | 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. |
| 33770527 | Derived | 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. |
| 32746884 | Derived | 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. |
| 30286776 | Derived | 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. |
| 30097477 | Derived | 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. |
| 29279305 | Derived | 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. |
| 28950889 | Derived | 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. |
| 27839651 | Derived | 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. |
| ID | Term |
|---|---|
| D005621 | Friedreich Ataxia |
| ID | Term |
|---|---|
| D013132 | Spinocerebellar Degenerations |
| D002526 | Cerebellar Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D013118 | Spinal Cord Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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