TY  - JOUR
AU  - Grobe-Einsler, Marcus
AU  - Borel, Stéphanie
AU  - Buchholz, Maresa
AU  - Sayah, Sabrina
AU  - Hilab, Rania
AU  - Pierron, Lucie
AU  - Iskandar, Audrey
AU  - Humphries, Brittany
AU  - Ewenczyk, Claire
AU  - Heinzmann, Anna
AU  - Atencio, Mariana
AU  - Feldmann, Katrin
AU  - Maas, Vivian
AU  - Faber, Jennifer
AU  - Boesch, Sylvia
AU  - Indelicato, Elisabetta
AU  - Reetz, Kathrin
AU  - Schulz, Jörg B.
AU  - Bischoff, Almut T.
AU  - Klopstock, Thomas
AU  - Schöls, Ludger
AU  - Minnerop, Martina
AU  - Timmann, Dagmar
AU  - Davies, Elin H.
AU  - Klockgether, Thomas
AU  - Durr, Alexandra
AU  - Xie, Feng
AU  - Michalowsky, Bernhard
TI  - Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
JO  - The lancet / Regional health. Europe
VL  - 61
SN  - 2666-7762
CY  - [Amsterdam]
PB  - Elsevier
M1  - DZNE-2025-01430
SP  - 101552
PY  - 2026
N1  - Funding: European Joint Programme on Rare Diseases (EJP RD). 
AB  - 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
LB  - PUB:(DE-HGF)16
DO  - DOI:10.1016/j.lanepe.2025.101552
UR  - https://pub.dzne.de/record/283018
ER  -