NCT02069509

Brief 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 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

Trial Health

98
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,200

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started May 2010

Longer than P75 for all trials

Geographic Reach
10 countries

16 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 2010

Completed
3.8 years until next milestone

First Submitted

Initial submission to the registry

February 19, 2014

Completed
5 days until next milestone

First Posted

Study publicly available on registry

February 24, 2014

Completed
10.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2024

Completed
Last Updated

October 3, 2025

Status Verified

September 1, 2025

Enrollment Period

14.6 years

First QC Date

February 19, 2014

Last Update Submit

September 29, 2025

Conditions

Friedreich's Ataxia

Keywords

Friedreich's AtaxiaEFACTSFRDA

Outcome Measures

Primary Outcomes (1)

  • Disease progression as assessed by clinical examination

    Participants are followed with annual assessments

Other Outcomes (1)

  • Transition to UNIFAI

    2010-2024

Study Arms (2)

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

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • Genetic diagnosis of FRDA

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (16)

Medical University Innsbruck, Department of Neurology

Innsbruck, 6020, Austria

Location

Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology

Brussels, 1070, Belgium

Location

Motol University Hospital, Centre for Hereditary Ataxias

Prague, 150 06, Czechia

Location

Hôpital Pitié Salpêtrière, Bâtiment ICM

Paris, 75013, France

Location

Hôpital de Hautepierre, Service de Neurologie

Strasbourg, 67098, France

Location

University Hospital Aachen, Dept. of Neurology

Aachen, 52074, Germany

Location

University Hospital Bonn, Dept. of Neurology

Bonn, 53105, Germany

Location

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

Munich, 80336, Germany

Location

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

Tübingen, 72076, Germany

Location

National and Kapodistrian University of Athens, Neurogenetics Unit

Athens, 11528, Greece

Location

Tallaght University Hospital, Department of Neurology

Dublin, D24 TP66, Ireland

Location

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, 20133, Italy

Location

Bambino Gesù Children's Hospital, Department of Neurosciences

Roma, 00146, Italy

Location

Hospital Sant Joan de Déu, Servicio de Neurología

Barcelona, 08950, Spain

Location

Hospital Universitario La Paz, Servicio de Neurologia

Madrid, 28046, Spain

Location

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

London, WC1N 3 BG, United Kingdom

Location

Related Publications (10)

  • 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.

    PMID: 25566998BACKGROUND

  • 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.

    PMID: 39738982DERIVED

  • 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.

    PMID: 38140802DERIVED

  • 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.

    PMID: 33770527DERIVED

  • 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.

    PMID: 32746884DERIVED

  • 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.

    PMID: 30286776DERIVED

  • 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.

    PMID: 30097477DERIVED

  • 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.

    PMID: 29279305DERIVED

  • 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.

    PMID: 28950889DERIVED

  • 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.

    PMID: 27839651DERIVED

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, urine, centrifugate of serum, EDTA, citrate blood

MeSH Terms

Conditions

Friedreich Ataxia

Condition Hierarchy (Ancestors)

Spinocerebellar DegenerationsCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesSpinal Cord DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMitochondrial DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • 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

    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

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
12 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 19, 2014

First Posted

February 24, 2014

Study Start

May 1, 2010

Primary Completion

December 1, 2024

Study Completion

December 1, 2024

Last Updated

October 3, 2025

Record last verified: 2025-09

Locations

IE(1)ES(2)CZ(1)GR(1)IT(2)FR(2)DE(4)GB(1)BE(1)AU(1)