%0 Journal Article
%A Grobe-Einsler, Marcus
%A Borel, Stéphanie
%A Buchholz, Maresa
%A Sayah, Sabrina
%A Hilab, Rania
%A Pierron, Lucie
%A Iskandar, Audrey
%A Humphries, Brittany
%A Ewenczyk, Claire
%A Heinzmann, Anna
%A Atencio, Mariana
%A Feldmann, Katrin
%A Maas, Vivian
%A Faber, Jennifer
%A Boesch, Sylvia
%A Indelicato, Elisabetta
%A Reetz, Kathrin
%A Schulz, Jörg B.
%A Bischoff, Almut T.
%A Klopstock, Thomas
%A Schöls, Ludger
%A Minnerop, Martina
%A Timmann, Dagmar
%A Davies, Elin H.
%A Klockgether, Thomas
%A Durr, Alexandra
%A Xie, Feng
%A Michalowsky, Bernhard
%T Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
%J The lancet / Regional health. Europe
%V 61
%@ 2666-7762
%C [Amsterdam]
%I Elsevier
%M DZNE-2025-01430
%P 101552
%D 2026
%Z Funding: European Joint Programme on Rare Diseases (EJP RD). 
%X Background: Friedreich ataxia (FA) is the most common autosomal recessive ataxia. Little attention has been paid to FA's impact on patient-reported, psychosocial, and health-economic outcomes. This study aimed to report these outcomes across FA's disability stages 1–5. Methods: We assessed patients in Germany, France, and Austria as part of the PROFA study, a European multicenter observational study. The protocol included a study center visit followed by a remote mobile assessment capturing ataxia severity (SARA), daily living deficits (FARS-ADL), cognitive and affective impairments (CCAS), health-related quality of life (HRQoL: PROM-Ataxia short-form, EQ-5D-5L), mental well-being (WEMWBS), communication disabilities (COMATAX), and healthcare and informal care utilization. FARS disability stages were used to demonstrate outcomes with effect size measures (Eta-Squared, Cramér's V). Multivariate regression models evaluated associations between z-standardized outcomes and disability stages. Findings: One hundred one patients (mean [SD]: age 35.0 [11.5]; GAA-repeat size 657 [299]; 50.5
%F PUB:(DE-HGF)16
%9 Journal Article
%R 10.1016/j.lanepe.2025.101552
%U https://pub.dzne.de/record/283018