Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) (EFACTS)

September 29, 2025 updated by: European Friedreich's Ataxia Consortium for Translational Studies

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

Study Overview

Status

Completed

Conditions

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.

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.

Study Type

Observational

Enrollment (Actual)

1200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Austria
      • Innsbruck, Austria, 6020
        • Medical University Innsbruck, Department of Neurology
  • Belgium
      • Brussels, Belgium, 1070
        • Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology
  • Czechia
      • Prague, Czechia, 150 06
        • Motol University Hospital, Centre for Hereditary Ataxias
  • France
      • Paris, France, 75013
        • Hôpital Pitié Salpêtrière, Bâtiment ICM
      • Strasbourg, France, 67098
        • Hôpital de Hautepierre, Service de Neurologie
  • Germany
      • Aachen, Germany, 52074
        • University Hospital Aachen, Dept. of Neurology
      • Bonn, Germany, 53105
        • University Hospital Bonn, Dept. of Neurology
      • Munich, Germany, 80336
        • University of Munich, Dept. of Neurology, Friedrich-Baur-Institut
      • Tübingen, Germany, 72076
        • University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
  • Greece
      • Athens, Greece, 11528
        • National and Kapodistrian University of Athens, Neurogenetics Unit
  • Ireland
      • Dublin, Ireland, D24 TP66
        • Tallaght University Hospital, Department of Neurology
  • Italy
      • Milan, Italy, 20133
        • Fondazione IRCCS Istituto Neurologico Carlo Besta
      • Roma, Italy, 00146
        • Bambino Gesù Children's Hospital, Department of Neurosciences
  • Spain
      • Barcelona, Spain, 08950
        • Hospital Sant Joan de Déu, Servicio de Neurología
      • Madrid, Spain, 28046
        • Hospital Universitario La Paz, Servicio de Neurologia
  • United Kingdom
      • London, United Kingdom, WC1N 3 BG
        • University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Individuals with a genetically confirmed diagnosis of FRDA and control research participants.

Description

Inclusion Criteria:

  • Genetic diagnosis of FRDA

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
FRDA patients
with genetically confirmed diagnosis of FRDA
Control research participants
Controls may be family members or recruited elsewhere, heterozygous GAA expansion carriers are allowed

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Disease progression as assessed by clinical examination
Time Frame: Participants are followed with annual assessments
Participants are followed with annual assessments

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
Transition to UNIFAI
Time Frame: 2010-2024
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

European Friedreich's Ataxia Consortium for Translational Studies

Investigators

  • Principal Investigator: Jörg B. Schulz, MD, University Hospital Aachen, Dept. of Neurology
  • Principal Investigator: Paola Giunti, MD, University College of London, Institute 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: 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: 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: 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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2010

Primary Completion (Actual)

December 1, 2024

Study Completion (Actual)

December 1, 2024

Study Registration Dates

First Submitted

February 19, 2014

First Submitted That Met QC Criteria

February 20, 2014

First Posted (Estimated)

February 24, 2014

Study Record Updates

Last Update Posted (Estimated)

October 3, 2025

Last Update Submitted That Met QC Criteria

September 29, 2025

Last Verified

September 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HEALTH-F2-2010- 242193

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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