Journal Article

DZNE-2025-01430

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

Grobe-Einsler, M. (First author)DZNE* ; Borel, S. ; Buchholz, M.DZNE* ; Sayah, S. ; Hilab, R. ; Pierron, L. ; Iskandar, A.DZNE* ; Humphries, B. ; Ewenczyk, C. ; Heinzmann, A. ; Atencio, M. ; Feldmann, K.DZNE* ; Maas, V.DZNE* ; Faber, J.DZNE* ; Boesch, S. ; Indelicato, E. ; Reetz, K. ; Schulz, J. B. ; Bischoff, A. T.DZNE* ; Klopstock, T.DZNE* ; Schöls, L.DZNE* ; Minnerop, M. ; Timmann, D. ; Davies, E. H. ; Klockgether, T.DZNE* ; Durr, A. ; Xie, F. ; Michalowsky, B. (Last author)DZNE*

2026
Elsevier [Amsterdam]

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Please use a persistent id in citations: doi:10.1016/j.lanepe.2025.101552

Abstract: 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% women) were included. Activities of daily living, HRQoL, communication disabilities, and informal care utilization worsened significantly across disability stages with moderate to high effect sizes. Cognitive-affective impairments and mental well-being showed significant associations with small effect sizes. Twenty-three patients (33.3%) received formal care, while 40 (58.0%) received informal care (mean 12.2 h/week). Omaveloxolone was used by 33 patients (32.7%). Annual healthcare costs excluding Omaveloxolone were €13,620 (payer) and €32,679 (societal perspective, including informal care and productivity losses). Interpretation: The results emphasize the multidimensional patient, societal, and economic burden of FA and the need for comprehensive care addressing physical, mental, and psychosocial health.

Note: Funding: European Joint Programme on Rare Diseases (EJP RD).

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Contributing Institute(s):

1. Patient-Reported Outcomes and Health Economics Research (AG Michalowsky)
2. Clinical Research Coordination (Clinical Research (Bonn))
3. Interventional Health Care Research (IHCR) (AG Thyrian)
4. Translational Health Care Research (AG Hoffmann)
5. Clinical Research Platform (CRP) (AG Spottke)
6. Clinical Research (Munich) (Clinical Research (Munich))
7. Clinical Neurogenetics (AG Schöls)
8. Patient Studies (Bonn) (Patient Studies (Bonn))

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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