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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

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

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

Detailed Summary:

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.


Sponsor: European Friedreich's Ataxia Consortium for Translational Studies

Current Primary Outcome: Disease progression as assessed by clinical examination [ Time Frame: Participants are followed with annual assessments ]

Original Primary Outcome: Disease progression as assessed by clinical examination [ Time Frame: Participants are followed for a max. of 4 years with annual assessments ]

Current Secondary Outcome:

Original Secondary Outcome:

Information By: European Friedreich's Ataxia Consortium for Translational Studies

Dates:
Date Received: February 19, 2014
Date Started: May 2010
Date Completion: December 2018
Last Updated: May 10, 2017
Last Verified: May 2017