Clinical trial NCT02069509: 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)
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Friedreich's Ataxia
Keywords: Friedreich's Ataxia
EFACTS
FRDA
Lead sponsor: European Friedreich's Ataxia Consortium for Translational Studies
Sponsor class: OTHER
First posted: 2014-02-24
Enrollment: 1200
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: Inclusion Criteria:

* Genetic diagnosis of FRDA
* For control research participants: genetically confirmed absence of FRDA

Primary outcomes:
measure: Disease progression as assessed by clinical examination
timeFrame: Participants are followed with annual assessments
Secondary outcomes:
Other outcomes:
Locations:
city: Innsbruck
country: Austria
facility: Medical University Innsbruck, Department of Neurology
city: Bruxelles
country: Belgium
facility: Université Libre de Bruxelles, Hôpital Erasme, Dpt of Neurology
city: Praha
country: Czechia
facility: Motol University Hospital, Centre for Hereditary Ataxias
city: Paris
country: France
facility: Hôpital Pitié Salpêtrière, Bâtiment ICM
city: Strasbourg
country: France
facility: Hôpital de Hautepierre, Service de Neurologie
city: Aachen
country: Germany
facility: University Hospital Aachen, Dept. of Neurology
city: Bonn
country: Germany
facility: University Hospital Bonn, Dept. of Neurology
city: Munich
country: Germany
facility: University of Munich, Dept. of Neurology, Friedrich-Baur-Institut
city: Tübingen
country: Germany
facility: University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
city: Athens
country: Greece
facility: National and Kapodistrian University of Athens, Neurogenetics Unit
city: Dublin
country: Ireland
facility: Tallaght University Hospital, Department of Neurology
city: Milan
country: Italy
facility: Fondazione IRCCS Istituto Neurologico Carlo Besta
city: Roma
country: Italy
facility: Bambino Gesù Children's Hospital, Department of Neurosciences
city: Barcelona
country: Spain
facility: Hospital Sant Joan de Déu, Servicio de Neurología
city: Madrid
country: Spain
facility: Hospital Universitario La Paz, Servicio de Neurologia
city: London
country: United Kingdom
facility: University College of London, Ataxia Centre, National Hospital for Neurology and Neurosurgery
Study officials:
affiliation: University Hospital Aachen, Dept. of Neurology
name: Jörg B. Schulz, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University College of London, Institute of Neurology
name: Paola Giunti, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Genetics of Neurodegenerative and Metabolic Diseases
name: Caterina Mariotti, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: La Paz University Hospital, Universidad Autónoma de Madrid, Dept. of Neurology,
name: Francisco J. Rodriguez de Rivera Garrido, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hôpital Pitié Salpêtrière, ICM
name: Alexandra Durr, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Munich, Dept. of Neurology with Friedrich-Baur-Institute
name: Thomas Klopstock, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Medical University Innsbruck, Department of Neurology
name: Sylvia Boesch, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Université Libre de Bruxelles, Service de Neurologie
name: Gilles Naeije, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Tübingen, Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research
name: Ludger Schöls, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University Hospital Bonn, Dept. of Neurology
name: Thomas Klockgether, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: National and Kapodistrian University of Athens, Neurogenetics Unit
name: Georgios Koutsis, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Tallaght University Hospital, Department of Neurology
name: Sinead Murphy, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Tallaght University Hospital, Department of Neurology
name: Richard Walsh, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Bambino Gesù Children's Hospital, Department of Neurosciences
name: Enrico Bertini, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital Sant Joan de Déu, Servicio de Neurología
name: Francesc Palau Martinez, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Motol University Hospital, Centre for Hereditary Ataxias
name: Martin Vyhnálek, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hôpital de Hautepierre, Service de Neurologie
name: Mathieu Anheim, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
name: Bart van de Warrenburg, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University Hospital Aachen, Dept. of Neurology
name: Kathrin Reetz, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodriguez de Rivera Garrido FJ, Rummey C, Schols L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol. 2021 May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2. Epub 2021 Mar 23.
citation: Indelicato E, Nachbauer W, Eigentler A, Amprosi M, Matteucci Gothe R, Giunti P, Mariotti C, Arpa J, Durr A, Klopstock T, Schols L, Giordano I, Burk K, Pandolfo M, Didszdun C, Schulz JB, Boesch S; EFACTS (European Friedreich's Ataxia Consortium for Translational Studies). Onset features and time to diagnosis in Friedreich's Ataxia. Orphanet J Rare Dis. 2020 Aug 3;15(1):198. doi: 10.1186/s13023-020-01475-9.
citation: Bonnechere B, Jansen B, Haack I, Omelina L, Feipel V, Van Sint Jan S, Pandolfo M. Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises. J Neuroeng Rehabil. 2018 Oct 4;15(1):87. doi: 10.1186/s12984-018-0430-7.
citation: Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodriguez de Rivera Garrido FJ, Schols L, Giordano I, Burk K, Pandolfo M, Schulz JB; EFACTS Study Group. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Neurology. 2018 Sep 4;91(10):e917-e930. doi: 10.1212/WNL.0000000000006121. Epub 2018 Aug 10.
citation: Tanguy Melac A, Mariotti C, Filipovic Pierucci A, Giunti P, Arpa J, Boesch S, Klopstock T, Muller Vom Hagen J, Klockgether T, Burk K, Schulz JB, Reetz K, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS group. Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964. Epub 2017 Dec 26.
citation: Lad M, Parkinson MH, Rai M, Pandolfo M, Bogdanova-Mihaylova P, Walsh RA, Murphy S, Emmanuel A, Panicker J, Giunti P. Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia. Orphanet J Rare Dis. 2017 Sep 26;12(1):158. doi: 10.1186/s13023-017-0709-y.
citation: Reetz K, Dogan I, Hilgers RD, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, de Rivera FJR, Schols L, Klockgether T, Burk K, Rai M, Pandolfo M, Schulz JB; EFACTS Study Group. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol. 2016 Dec;15(13):1346-1354. doi: 10.1016/S1474-4422(16)30287-3.