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

Friedreich's Ataxia Clinical Trial

— EFACTS  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02069509
• Other study ID #: HEALTH-F2-2010- 242193
• Status: Recruiting
• Start date: May 2010
• Est. completion date: December 2024

Study information

• Verified date: May 2023
• Source: European Friedreich's Ataxia Consortium for Translational Studies
• Contact: Jörg B. Schulz, MD
• Phone: 0049-241-80-89600
• Email: jschulz[@]ukaachen.de
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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 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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1200
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Genetic diagnosis of FRDA

• For control research participants: genetically confirmed absence of FRDA

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Friedreich Ataxia
• Friedreich's Ataxia

Locations

Country	Name	City	State
Austria	Medical University Innsbruck, Department of Neurology	Innsbruck
Belgium	Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology	Bruxelles
Czechia	Motol University Hospital, Centre for Hereditary Ataxias	Praha
France	Hôpital Pitié Salpêtrière, Bâtiment ICM	Paris
France	Hôpital de Hautepierre, Service de Neurologie	Strasbourg
Germany	University Hospital Aachen, Dept. of Neurology	Aachen
Germany	University Hospital Bonn, Dept. of Neurology	Bonn
Germany	University of Munich, Dept. of Neurology, Friedrich-Baur-Institut	Munich
Germany	University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research	Tübingen
Greece	National and Kapodistrian University of Athens, Neurogenetics Unit	Athens
Ireland	Tallaght University Hospital, Department of Neurology	Dublin
Italy	Fondazione IRCCS Istituto Neurologico Carlo Besta	Milan
Italy	Bambino Gesù Children's Hospital, Department of Neurosciences	Roma
Spain	Hospital Sant Joan de Déu, Servicio de Neurología	Barcelona
Spain	Hospital Universitario La Paz, Servicio de Neurologia	Madrid
United Kingdom	University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery	London

Sponsors (1)

Lead Sponsor	Collaborator
European Friedreich's Ataxia Consortium for Translational Studies

Countries where clinical trial is conducted

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

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Disease progression as assessed by clinical examination		Participants are followed with annual assessments

External Links

•   EFACTS Registry