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| Home > Documents in Process > Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study > print |
| 001 | 283018 | ||
| 005 | 20251222093105.0 | ||
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| 100 | 1 | _ | |a Grobe-Einsler, Marcus |0 P:(DE-2719)9001510 |b 0 |e First author |
| 245 | _ | _ | |a Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study |
| 260 | _ | _ | |a [Amsterdam] |c 2026 |b Elsevier |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a Funding: European Joint Programme on Rare Diseases (EJP RD). |
| 520 | _ | _ | |a 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. |
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| 700 | 1 | _ | |a Borel, Stéphanie |0 0000-0002-8597-9937 |b 1 |
| 700 | 1 | _ | |a Buchholz, Maresa |0 P:(DE-2719)9002138 |b 2 |u dzne |
| 700 | 1 | _ | |a Sayah, Sabrina |b 3 |
| 700 | 1 | _ | |a Hilab, Rania |b 4 |
| 700 | 1 | _ | |a Pierron, Lucie |b 5 |
| 700 | 1 | _ | |a Iskandar, Audrey |0 P:(DE-2719)9003158 |b 6 |u dzne |
| 700 | 1 | _ | |a Humphries, Brittany |b 7 |
| 700 | 1 | _ | |a Ewenczyk, Claire |b 8 |
| 700 | 1 | _ | |a Heinzmann, Anna |b 9 |
| 700 | 1 | _ | |a Atencio, Mariana |b 10 |
| 700 | 1 | _ | |a Feldmann, Katrin |0 P:(DE-2719)9003101 |b 11 |u dzne |
| 700 | 1 | _ | |a Maas, Vivian |0 P:(DE-2719)9002174 |b 12 |u dzne |
| 700 | 1 | _ | |a Faber, Jennifer |0 P:(DE-2719)2811327 |b 13 |u dzne |
| 700 | 1 | _ | |a Boesch, Sylvia |b 14 |
| 700 | 1 | _ | |a Indelicato, Elisabetta |b 15 |
| 700 | 1 | _ | |a Reetz, Kathrin |0 0000-0002-9730-9228 |b 16 |
| 700 | 1 | _ | |a Schulz, Jörg B. |b 17 |
| 700 | 1 | _ | |a Bischoff, Almut T. |0 P:(DE-2719)9003293 |b 18 |u dzne |
| 700 | 1 | _ | |a Klopstock, Thomas |0 P:(DE-2719)2810704 |b 19 |u dzne |
| 700 | 1 | _ | |a Schöls, Ludger |0 P:(DE-2719)2810795 |b 20 |u dzne |
| 700 | 1 | _ | |a Minnerop, Martina |b 21 |
| 700 | 1 | _ | |a Timmann, Dagmar |b 22 |
| 700 | 1 | _ | |a Davies, Elin H. |b 23 |
| 700 | 1 | _ | |a Klockgether, Thomas |0 P:(DE-2719)2810314 |b 24 |u dzne |
| 700 | 1 | _ | |a Durr, Alexandra |b 25 |
| 700 | 1 | _ | |a Xie, Feng |b 26 |
| 700 | 1 | _ | |a Michalowsky, Bernhard |0 P:(DE-2719)2810763 |b 27 |e Last author |u dzne |
| 773 | _ | _ | |a 10.1016/j.lanepe.2025.101552 |g Vol. 61, p. 101552 - |0 PERI:(DE-600)3055963-7 |p 101552 |t The lancet / Regional health. Europe |v 61 |y 2026 |x 2666-7762 |
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