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

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ClinicalTrials.gov Identifier: NCT02069509
Recruitment Status : Unknown
Verified February 2020 by European Friedreich's Ataxia Consortium for Translational Studies.
Recruitment status was:  Recruiting
First Posted : February 24, 2014
Last Update Posted : March 2, 2020
Sponsor:
Information provided by (Responsible Party):
European Friedreich's Ataxia Consortium for Translational Studies

Tracking Information
First Submitted Date February 19, 2014
First Posted Date February 24, 2014
Last Update Posted Date March 2, 2020
Study Start Date May 2010
Estimated Primary Completion Date December 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 12, 2015)
Disease progression as assessed by clinical examination [ Time Frame: Participants are followed with annual assessments ]
Original Primary Outcome Measures
 (submitted: February 20, 2014)
Disease progression as assessed by clinical examination [ Time Frame: Participants are followed for a max. of 4 years with annual assessments ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
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 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 [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 10 Years
Biospecimen Retention:   Samples With DNA
Description:
whole blood, urine, centrifugate of serum, EDTA, citrate blood
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.
Condition Friedreich's Ataxia
Intervention Not Provided
Study Groups/Cohorts
  • Control research participants
    diagnosis of FRDA genetically excluded
  • FRDA patients
    with genetically confirmed diagnosis of FRDA
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: May 10, 2017)
900
Original Estimated Enrollment
 (submitted: February 20, 2014)
650
Estimated Study Completion Date December 2021
Estimated Primary Completion Date December 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Genetic diagnosis of FRDA
  • For control research participants: genetically confirmed absence of FRDA
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Austria,   Belgium,   France,   Germany,   Italy,   Spain,   United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT02069509
Other Study ID Numbers HEALTH-F2-2010- 242193
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Current Responsible Party European Friedreich's Ataxia Consortium for Translational Studies
Original Responsible Party Same as current
Current Study Sponsor European Friedreich's Ataxia Consortium for Translational Studies
Original Study Sponsor Same as current
Collaborators Not Provided
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 Dürr, 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: Massimo Pandolfo, MD Université Libre de Bruxelles, Service de Neurologie
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: Katrin Bürk, MD Philipps University of Marburg, Dept. of Neurology
PRS Account European Friedreich's Ataxia Consortium for Translational Studies
Verification Date February 2020