Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

Grobe-Einsler, Marcus ; Borel, Stéphanie ; Buchholz, Maresa; Sayah, Sabrina; Hilab, Rania; Pierron, Lucie; Iskandar, Audrey; Humphries, Brittany; Ewenczyk, Claire; Heinzmann, Anna; Atencio, Mariana; Feldmann, Katrin; Maas, Vivian; Faber, Jennifer; Boesch, Sylvia; Indelicato, Elisabetta; Reetz, Kathrin ; Schulz, Jörg B.; Bischoff, Almut T.; Klopstock, Thomas ; Schöls, Ludger; Minnerop, Martina; Timmann, Dagmar; Davies, Elin H.; Klockgether, Thomas; Durr, Alexandra; Xie, Feng und Michalowsky, Bernhard (2026): Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study. In: The Lancet Regional Health - Europe, Bd. 61, 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.

• Dokumententyp: Zeitschriftenartikel
• EU Funded Grant Agreement Number: 825575
• EU-Projekte: Horizon 2020
• Fakultät: Medizin > Munich Cluster for Systems Neurology (SyNergy) ; Medizin > Klinikum der LMU München > Neurochirurgische Klinik und Poliklinik
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 26667762
• Sprache: Englisch