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

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

Conditions

• Friedreich's Ataxia

Sponsors & Collaborators

• European Friedreich's Ataxia Consortium for Translational Studies

  lead OTHER

Principal Investigators

• Jörg B. Schulz, MD · University Hospital Aachen, Dept. of Neurology

• Paola Giunti, MD · University College of London, Institute of Neurology

• Caterina Mariotti, MD · Fondazione IRCCS Istituto Neurologico Carlo Besta

• Francisco J. Rodriguez de Rivera Garrido, MD · La Paz University Hospital, Dept. of Neurology

• Alexandra Durr, MD · Hôpital Pitié Salpêtrière, ICM

• Thomas Klopstock, MD · University of Munich, Dept. of Neurology with Friedrich-Baur-Institute

• Sylvia Boesch, MD · Medical University Innsbruck, Department of Neurology

• Gilles Naeije, MD · Université Libre de Bruxelles and Cliniques Universitaires de Bruxelles-Hôpital Erasme

• Ludger Schöls, MD · University of Tübingen, Dept. of Neurology with Hertie-Institute for Clinical Brain Research

• Thomas Klockgether, MD · University Hospital Bonn, Dept. of Neurology

• Georgios Koutsis, MD · National and Kapodistrian University of Athens, Neurogenetics Unit

• Sinead Murphy, MD · Tallaght University Hospital, Department of Neurology

• Richard Walsh, MD · Tallaght University Hospital, Department of Neurology

• Enrico Bertini, MD · Bambino Gesù Children's Hospital, Department of Neurosciences

• Francesc Palau Martinez, MD · Hospital Sant Joan de Déu, Servicio de Neurología

• Martin Vyhnálek, MD · Motol University Hospital, Centre for Hereditary Ataxias

• Mathieu Anheim, MD · Hôpital de Hautepierre, Service de Neurologie

• Bart van de Warrenburg, MD · STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM

• Kathrin Reetz, MD · University Hospital Aachen, Dept. of Neurology

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2010-05-31

Primary Completion

2024-12-31

Completion

2024-12-31

Countries

• Austria
• Belgium
• Czechia
• France
• Germany
• Greece
• Ireland
• Italy
• Spain
• United Kingdom

Study Locations