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

May 5, 2023 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

Recruiting

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.

Study Type

Observational

Enrollment (Anticipated)

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 Contact

Study Contact Backup

Study Locations

  • Austria
      • Innsbruck, Austria, 6020
        • Recruiting
        • Medical University Innsbruck, Department of Neurology
        • Contact:
        • Principal Investigator:
          • Sylvia Boesch, MD
        • Sub-Investigator:
          • Wolfgang Nachbauer, MD
  • Belgium
  • Czechia
      • Praha, Czechia, 150 06
        • Recruiting
        • Motol University Hospital, Centre for Hereditary Ataxias
        • Contact:
          • Lucie Šťovíčková, MD
          • Phone Number: (Children) +420 22443-3302,-3334
          • Email: ataxie@fnmotol.cz
        • Contact:
        • Principal Investigator:
          • Martin Vyhnálek, MD
  • France
      • Paris, France, 75013
        • Recruiting
        • Hôpital Pitié Salpêtrière, Bâtiment ICM
        • Contact:
        • Principal Investigator:
          • Alexandra Durr, MD
      • Strasbourg, France, 67098
        • Not yet recruiting
        • Hôpital de Hautepierre, Service de Neurologie
        • Principal Investigator:
          • Mathieu Anheim, MD
        • Contact:
  • Germany
      • Aachen, Germany, 52074
        • Recruiting
        • University Hospital Aachen, Dept. of Neurology
        • Principal Investigator:
          • Jörg B. Schulz, MD
        • Contact:
        • Principal Investigator:
          • Kathrin Reetz, MD
      • Bonn, Germany, 53105
        • Recruiting
        • University Hospital Bonn, Dept. of Neurology
        • Principal Investigator:
          • Thomas Klockgether, MD
      • Munich, Germany, 80336
        • Recruiting
        • University of Munich, Dept. of Neurology, Friedrich-Baur-Institut
        • Principal Investigator:
          • Thomas Klopstock, MD
        • Sub-Investigator:
          • Ivan Karin, MD
        • Contact:
      • Tübingen, Germany, 72076
        • Recruiting
        • University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
        • Contact:
        • Principal Investigator:
          • Ludger Schöls, MD
  • Greece
      • Athens, Greece, 11528
        • Recruiting
        • National and Kapodistrian University of Athens, Neurogenetics Unit
        • Contact:
        • Principal Investigator:
          • Georgios Koutsis, MD
  • Ireland
      • Dublin, Ireland, D24 TP66
        • Recruiting
        • Tallaght University Hospital, Department of Neurology
        • Contact:
        • Contact:
        • Principal Investigator:
          • Sinead Murphy, MD
        • Principal Investigator:
          • Richard Walsh, MD
  • Italy
      • Milan, Italy, 20133
        • Recruiting
        • Fondazione IRCCS Istituto Neurologico Carlo Besta
        • Principal Investigator:
          • Caterina Mariotti, MD
        • Sub-Investigator:
          • Lorenzo Nanetti, MD
        • Contact:
      • Roma, Italy, 00146
        • Recruiting
        • Bambino Gesù Children's Hospital, Department of Neurosciences
        • Principal Investigator:
          • Enrico Bertini, MD
        • Contact:
  • Spain
      • Barcelona, Spain, 08950
        • Recruiting
        • Hospital Sant Joan de Déu, Servicio de Neurología
        • Contact:
        • Principal Investigator:
          • Francesc Palau Martinez, MD
      • Madrid, Spain, 28046
        • Recruiting
        • Hospital Universitario La Paz, Servicio de Neurologia
        • Principal Investigator:
          • Francisco J. Rodriguez de Rivera Garrido, MD
        • Contact:
  • United Kingdom
      • London, United Kingdom, WC1N 3 BG
        • Recruiting
        • University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery
        • Principal Investigator:
          • Paola Giunti, MD
        • Contact:

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 with genetically excluded diagnosis of FRDA.

Description

Inclusion Criteria:

  • Genetic diagnosis of FRDA
  • For control research participants: genetically confirmed absence 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
Control research participants
diagnosis of FRDA genetically excluded
FRDA patients
with genetically confirmed diagnosis of FRDA

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

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: Caterina Mariotti, MD, Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Genetics of Neurodegenerative and Metabolic Diseases
  • Principal Investigator: Francisco J. Rodriguez de Rivera Garrido, MD, La Paz University Hospital, Universidad Autónoma de Madrid, 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: Ludger Schöls, MD, University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
  • Principal Investigator: Thomas Klockgether, MD, University Hospital Bonn, Dept. of Neurology
  • Principal Investigator: Gilles Naeije, MD, Université Libre de Bruxelles, Service de Neurologie
  • 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

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

May 1, 2010

Primary Completion (Anticipated)

December 1, 2024

Study Completion (Anticipated)

December 1, 2024

Study Registration Dates

First Submitted

February 19, 2014

First Submitted That Met QC Criteria

February 20, 2014

First Posted (Estimate)

February 24, 2014

Study Record Updates

Last Update Posted (Actual)

May 9, 2023

Last Update Submitted That Met QC Criteria

May 5, 2023

Last Verified

May 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HEALTH-F2-2010- 242193

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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