TY  - JOUR
AU  - Reetz, Kathrin
AU  - Dogan, Imis
AU  - Hilgers, Ralf-Dieter
AU  - Giunti, Paola
AU  - Parkinson, Michael H
AU  - Mariotti, Caterina
AU  - Nanetti, Lorenzo
AU  - Dürr, Alexandra
AU  - Ewenczyk, Claire
AU  - Boesch, Sylvia
AU  - Nachbauer, Wolfgang
AU  - Klopstock, Thomas
AU  - Stendel, Claudia
AU  - Rodríguez de Rivera Garrido, Francisco Javier
AU  - Rummey, Christian
AU  - Schöls, Ludger
AU  - Hayer, Stefanie
AU  - Klockgether, Thomas
AU  - Giordano, Ilaria
AU  - Didszun, Claire
AU  - Rai, Myriam
AU  - Pandolfo, Massimo
AU  - Schulz, Jörg B
AU  - Labrum, Robyn
AU  - Thomas-Black, Gilbert
AU  - Manso, Katarina
AU  - Solanky, Nita
AU  - Gellera, Cinzia
AU  - Mongelli, Alessia
AU  - Castaldo, Anna
AU  - Fichera, Mario
AU  - Palau, Francesc
AU  - O'Callaghan, Mar
AU  - Biet, Marie
AU  - Monin, Marie Lorraine
AU  - Eigentler, Andreas
AU  - Indelicato, Elisabetta
AU  - Amprosi, Matthias
AU  - Radelfahr, Florentine
AU  - Bischoff, Almut T.
AU  - Holtbernd, Florian
AU  - Brcina, Nikolina
AU  - Hohenfeld, Christian
AU  - Koutsis, Georgios
AU  - Breza, Marianthi
AU  - Bertini, Enrico
AU  - Vasco, Gessica
TI  - Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
JO  - The lancet  / Neurology
VL  - 20
IS  - 5
SN  - 1474-4422
CY  - London
PB  - Lancet Publ. Group
M1  - DZNE-2021-01260
SP  - 362 - 372
PY  - 2021
AB  - 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
KW  - Activities of Daily Living
KW  - Adult
KW  - Cohort Studies
KW  - Disease Progression
KW  - Europe
KW  - Female
KW  - Friedreich Ataxia: complications
KW  - Friedreich Ataxia: pathology
KW  - Friedreich Ataxia: physiopathology
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mobility Limitation
KW  - Registries
KW  - Time Factors
KW  - Young Adult
LB  - PUB:(DE-HGF)16
C6  - pmid:33770527
C6  - 33770527
DO  - DOI:10.1016/S1474-4422(21)00027-2
UR  - https://pub.dzne.de/record/157803
ER  -