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Friedreich's AtaxiaEFACTSNCT02069509

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

An observational study of Friedreich's Ataxia, run by European Friedreich's Ataxia Consortium for Translational Studies at 16 sites in 10 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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… Read more about this study

Who is it for?
Any ageHealthy volunteers can take part
Conditions the study is for
Friedreich's Ataxia
How many people
1,200 participants
Where
16 sitesin 10 countries
Study dates
May 2010to Dec 2024
How long will I take part?
12 Years
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • Healthy volunteers accepted
  • Child, Adult, Older adult

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

Who may be able to join

  • Genetic diagnosis of FRDA

Who cannot join

None listed.

Trial locations and contacts

16 sites in 10 countries.

16 sites in 10 countries

Germany4 sites

  • University Hospital Aachen, Dept. of Neurology

    Aachen, 52074

  • University Hospital Bonn, Dept. of Neurology

    Bonn, 53105

  • University of Munich, Dept. of Neurology, Friedrich-Baur-Institut

    Munich, 80336

  • University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research

    Tübingen, 72076

Other trials in Germany

France2 sites

  • Hôpital Pitié Salpêtrière, Bâtiment ICM

    Paris, 75013

  • Hôpital de Hautepierre, Service de Neurologie

    Strasbourg, 67098

Other trials in France

Italy2 sites

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, 20133

  • Bambino Gesù Children's Hospital, Department of Neurosciences

    Roma, 00146

Other trials in Italy

Spain2 sites

  • Hospital Sant Joan de Déu, Servicio de Neurología

    Barcelona, 08950

  • Hospital Universitario La Paz, Servicio de Neurologia

    Madrid, 28046

Other trials in Spain

Austria1 site

  • Medical University Innsbruck, Department of Neurology

    Innsbruck, 6020

Other trials in Austria

Belgium1 site

  • Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology

    Brussels, 1070

Other trials in Belgium

Czechia1 site

  • Motol University Hospital, Centre for Hereditary Ataxias

    Prague, 150 06

Other trials in Czechia

Greece1 site

  • National and Kapodistrian University of Athens, Neurogenetics Unit

    Athens, 11528

Other trials in Greece

Ireland1 site

  • Tallaght University Hospital, Department of Neurology

    Dublin, D24 TP66

Other trials in Ireland

United Kingdom1 site

  • University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery

    London, WC1N 3 BG

Other trials in United Kingdom

About this study

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
Read the 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.

Keywords
Friedreich's Ataxia, EFACTS, FRDA
Medical subject headings
Friedreich Ataxia

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT02069509
Study groupRoleWhat they receive
Control research participantsControls may be family members or recruited elsewhere, heterozygous GAA expansion carriers are allowed
FRDA patientswith genetically confirmed diagnosis of FRDA

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Disease progression as assessed by clinical examination

    Measured: Participants are followed with annual assessments

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted24 Feb 2014 (estimated)
  2. Study startMay 2010
  3. Primary completionDec 2024
  4. Study completionDec 2024

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
1,200 participants (actual)
Target duration
12 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT02069509
Sponsor's protocol ID
HEALTH-F2-2010- 242193
Acronym
EFACTS
Status last verified
Sep 2025
First submitted
19 Feb 2014
Last updated
3 Oct 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • 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.

    PubMed 25566998

  • 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.

    PubMed 39738982

  • 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.

    PubMed 38140802

  • 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.

    PubMed 33770527

  • 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.

    PubMed 32746884

  • 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.

    PubMed 30286776

  • 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.

    PubMed 30097477

  • 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.

    PubMed 29279305

  • 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.

    PubMed 28950889

  • 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.

    PubMed 27839651

Questions about this trial

What is this clinical trial studying?

An observational study of Friedreich's Ataxia, run by European Friedreich's Ataxia Consortium for Translational Studies at 16 sites in 10 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 1 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 3 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 16 sites in Germany, France, Italy, Spain, Austria and 5 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Disease progression as assessed by clinical examination (time frame: Participants are followed with annual assessments). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02069509, which also lists 10 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Oct 2025.

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