%0 Journal Article
%A Reetz, Kathrin
%A Dogan, Imis
%A Hilgers, Ralf-Dieter
%A Giunti, Paola
%A Parkinson, Michael H
%A Mariotti, Caterina
%A Nanetti, Lorenzo
%A Dürr, Alexandra
%A Ewenczyk, Claire
%A Boesch, Sylvia
%A Nachbauer, Wolfgang
%A Klopstock, Thomas
%A Stendel, Claudia
%A Rodríguez de Rivera Garrido, Francisco Javier
%A Rummey, Christian
%A Schöls, Ludger
%A Hayer, Stefanie
%A Klockgether, Thomas
%A Giordano, Ilaria
%A Didszun, Claire
%A Rai, Myriam
%A Pandolfo, Massimo
%A Schulz, Jörg B
%A Labrum, Robyn
%A Thomas-Black, Gilbert
%A Manso, Katarina
%A Solanky, Nita
%A Gellera, Cinzia
%A Mongelli, Alessia
%A Castaldo, Anna
%A Fichera, Mario
%A Palau, Francesc
%A O'Callaghan, Mar
%A Biet, Marie
%A Monin, Marie Lorraine
%A Eigentler, Andreas
%A Indelicato, Elisabetta
%A Amprosi, Matthias
%A Radelfahr, Florentine
%A Bischoff, Almut T.
%A Holtbernd, Florian
%A Brcina, Nikolina
%A Hohenfeld, Christian
%A Koutsis, Georgios
%A Breza, Marianthi
%A Bertini, Enrico
%A Vasco, Gessica
%T Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
%J The lancet  / Neurology
%V 20
%N 5
%@ 1474-4422
%C London
%I Lancet Publ. Group
%M DZNE-2021-01260
%P 362 - 372
%D 2021
%X Background: The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess progression characteristics and to identify patient groups with differential progression rates based on longitudinal 4-year data to inform upcoming clinical trials in Friedreich's ataxia.Methods: EFACTS is a prospective, observational cohort study based on an ongoing and open-ended registry. Patients with genetically confirmed Friedreich's ataxia were seen annually at 11 clinical centres in seven European countries (Austria, Belgium, France, Germany, Italy, Spain, and the UK). Data from baseline to 4-year follow-up were included in the current analysis. Our primary endpoints were the Scale for the Assessment and Rating of Ataxia (SARA) and the activities of daily living (ADL). Linear mixed-effect models were used to analyse annual disease progression for the entire cohort and subgroups defined by age of onset and ambulatory abilities. Power calculations were done for potential trial designs. This study is registered with ClinicalTrials.gov, NCT02069509.Findings: Between Sept 15, 2010, and Nov 20, 2018, of 914 individuals assessed for eligibility, 602 patients were included. Of these, 552 (92
%K Activities of Daily Living
%K Adult
%K Cohort Studies
%K Disease Progression
%K Europe
%K Female
%K Friedreich Ataxia: complications
%K Friedreich Ataxia: pathology
%K Friedreich Ataxia: physiopathology
%K Humans
%K Male
%K Middle Aged
%K Mobility Limitation
%K Registries
%K Time Factors
%K Young Adult
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33770527
%$ 33770527
%R 10.1016/S1474-4422(21)00027-2
%U https://pub.dzne.de/record/157803