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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 : Recruiting
First Posted : February 24, 2014
Last Update Posted : May 11, 2017
Sponsor:
Information provided by (Responsible Party):

Study Description
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

Condition or disease
Friedreich's Ataxia

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 Design

Study Type : Observational [Patient Registry]
Estimated Enrollment : 900 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 6 Years
Official Title: Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Study Start Date : May 2010
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018


Groups and Cohorts

Group/Cohort
Control research participants
diagnosis of FRDA genetically excluded
FRDA patients
with genetically confirmed diagnosis of FRDA


Outcome Measures

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

Biospecimen Retention:   Samples With DNA
whole blood, urine, centrifugate of serum, EDTA, citrate blood

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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.
Criteria

Inclusion Criteria:

  • Genetic diagnosis of FRDA
  • For control research participants: genetically confirmed absence of FRDA
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02069509


Contacts
Contact: Jörg B. Schulz, MD 0049-241-80-89600 jschulz@ukaachen.de
Contact: Kathrin Reetz, MD 0049-241-80-89600 kreetz@ukaachen.de

Locations
Austria
Medical University Innsbruck, Department of Neurology Recruiting
Innsbruck, Austria, 6020
Contact: Sylvia Boesch, MD       sylvia.boesch@i-med.ac.at   
Principal Investigator: Sylvia Boesch, MD         
Sub-Investigator: Wolfgang Nachbauer, MD         
Belgium
Université Libre de Bruxelles Recruiting
Bruxelles, Belgium, 1070
Contact: Myriam Rai, PhD       myriam.rai@ulb.ac.be   
Principal Investigator: Massimo Pandolfo, MD         
Sub-Investigator: Chantal Depondt, MD         
France
Hôpital Pitié Salpêtrière Recruiting
Paris, France, 75013
Contact: Alexandra Dürr, MD       alexandra.durr@upmc.fr   
Principal Investigator: Alexandra Dürr, PhD         
Sub-Investigator: Perrine Charles, MD         
Hôptal de Hautepierre, Department of Neurology Recruiting
Strasbourg, France, 67098
Contact: Mathieu Anheim, MD       mathieu.anheim@chru-strasbourg.fr   
Principal Investigator: Mathieu Anheim, MD         
Germany
University Hospital Aachen, Dept. of Neurology Recruiting
Aachen, Germany, 52074
Contact: Jörg Schulz, MD       jschulz@ukaachen.de   
Principal Investigator: Jörg B. Schulz, MD         
Sub-Investigator: Manuel Dafotakis, MD         
University Hospital Bonn, Dept. of Neurology Recruiting
Bonn, Germany, 53105
Contact: Christine Schneider, MD       christine.schneider@dzne.de   
Principal Investigator: Thomas Klockgether, MD         
Sub-Investigator: Christine Schneider, MD         
Philipps University Marburg, Dept. of Neurology Recruiting
Marburg, Germany, 35039
Contact: Katrin Bürk, MD       buerk@med.uni-marburg.de   
Principal Investigator: Katrin Bürk, MD         
University of Munich, Dept. of Neurology Recruiting
Munich, Germany, 81377
Contact: Ivan Karin, MD       ivan.karin@med.uni-muenchen.de   
Principal Investigator: Thomas Klopstock, MD         
Sub-Investigator: Ivan Karin, MD         
University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research Recruiting
Tübingen, Germany, 72076
Contact: Ludger Schöls, MD       ludger.schoels@med.uni-tuebingen.de   
Sub-Investigator: Jennifer Müller vom Hagen, MD         
Principal Investigator: Ludger Schöls, MD         
Italy
Fondazione IRCCS Istituto Neurologico Carlo Besta Recruiting
Milan, Italy, 20133
Contact: Caterina Mariotti, MD       mariotti.c@istituto-besta.it   
Principal Investigator: Caterina Mariotti, MD         
Sub-Investigator: Lorenzo Nanetti, MD         
Sub-Investigator: Marta Panzeri, MD         
Spain
Hospital Universitario La Paz, Servicio de Neurologia Recruiting
Madrid, Spain, 28046
Contact: Francisco J. Rodriguez de Rivera Garrido, MD       rodriguezderivera@yahoo.es   
Principal Investigator: Francisco J. Rodriguez de Rivera Garrido, MD         
United Kingdom
University College of London, Institute of Neurology Recruiting
London, United Kingdom, WC1N 3 BG
Contact: Paola Giunti, MD       pgiunti@ion.ucl.ac.uk   
Principal Investigator: Paola Giunti, MD         
Sub-Investigator: Michael H. Parkinson, MBBS         
Sponsors and Collaborators
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 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
More Information

Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: European Friedreich's Ataxia Consortium for Translational Studies
ClinicalTrials.gov Identifier: NCT02069509     History of Changes
Other Study ID Numbers: HEALTH-F2-2010- 242193
First Posted: February 24, 2014    Key Record Dates
Last Update Posted: May 11, 2017
Last Verified: May 2017

Keywords provided by European Friedreich's Ataxia Consortium for Translational Studies:
Friedreich's Ataxia
EFACTS
FRDA

Additional relevant MeSH terms:
Ataxia
Cerebellar Ataxia
Friedreich Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases