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

Conditions

Friedreich's Ataxia

Keywords

Friedreich's Ataxia, EFACTS, 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. The EFACTS study will now be converted to a globally harmonized version of the protocol. Data from Europe will continue to be stored in a European database maintained by FARA Europe. While this is a continuation of the study for current patients, the project will be given the new study title UNIFAI to reflect the inclusion of new global sites.

Buchholz M, Pfaff M, Iskandar A, Reetz K, Schulz JB, Grobe-Einsler M, Klockgether T, Michalowsky B, EFACTS Study Group.

2024-12-30

10.1007/s40120-024-00694-7

Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study

Elisabetta Indelicato, Kathrin Reetz, Sarah Maier, Wolfgang Nachbauer, Matthias Amprosi et al. (23 authors)

Movement Disorders2023-12-2320 citations

10.1002/mds.29687

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.

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, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB, EFACTS study group.

2021-03-2371 citations

10.1016/s1474-4422(21)00027-2

Onset features and time to diagnosis in Friedreich's Ataxia.

Indelicato E, Nachbauer W, Eigentler A, Amprosi M, Matteucci Gothe R, Giunti P, Mariotti C, Arpa J, Durr A, Klopstock T, Schöls L, Giordano I, Bürk K, Pandolfo M, Didszdun C, Schulz JB, Boesch S, EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies).

2020-08-0344 citations

10.1186/s13023-020-01475-9

Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises

Bruno Bonnechère, Bart Jansen, Inès Haack, Luboš Omelina, Véronique Feipel et al. (7 authors)

Journal of NeuroEngineering and Rehabilitation2018-10-0429 citations

10.1186/s12984-018-0430-7

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

Audrey Tanguy Melac, Caterina Mariotti, Antoine Filipovic Pierucci, Paola Giunti, Javier Arpa et al. (15 authors)

Journal of Neurology Neurosurgery & Psychiatry2017-12-2618 citations

10.1136/jnnp-2017-316964

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

Reetz K, Dogan I, Hilgers RD, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, de Rivera FJR, Schöls L, Klockgether T, Bürk K, Rai M, Pandolfo M, Schulz JB, EFACTS Study Group.

2016-12-0199 citations

10.1016/s1474-4422(16)30287-3

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

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, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB.

2015-01-05154 citations

10.1016/s1474-4422(14)70321-7

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

Inclusion criteria

* Genetic diagnosis of FRDA

Design outcomes

Primary

Measure	Time frame
Disease progression as assessed by clinical examination	Participants are followed with annual assessments

Other

Measure	Time frame	Description
Transition to UNIFAI	2010-2024	The EFACTS study will now be converted to a globally harmonized version of the protocol. Data from Europe will continue to be stored in a European database maintained by FARA Europe. While this is a continuation of the study for current patients, the project will be given the new study title UNIFAI to reflect the inclusion of new global sites.

Countries

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

Outcome results