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@ARTICLE{GrobeEinsler:283018,
      author       = {Grobe-Einsler, Marcus and Borel, Stéphanie and Buchholz,
                      Maresa and Sayah, Sabrina and Hilab, Rania and Pierron,
                      Lucie and Iskandar, Audrey and Humphries, Brittany and
                      Ewenczyk, Claire and Heinzmann, Anna and Atencio, Mariana
                      and Feldmann, Katrin and Maas, Vivian and Faber, Jennifer
                      and Boesch, Sylvia and Indelicato, Elisabetta and Reetz,
                      Kathrin and Schulz, Jörg B. and Bischoff, Almut T. and
                      Klopstock, Thomas and Schöls, Ludger and Minnerop, Martina
                      and Timmann, Dagmar and Davies, Elin H. and Klockgether,
                      Thomas and Durr, Alexandra and Xie, Feng and Michalowsky,
                      Bernhard},
      title        = {{P}atient-reported, psychosocial and health economic
                      outcomes in mild to moderate {F}riedreich's ataxia: baseline
                      results of the {PROFA} study},
      journal      = {The lancet / Regional health. Europe},
      volume       = {61},
      issn         = {2666-7762},
      address      = {[Amsterdam]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2025-01430},
      pages        = {101552},
      year         = {2026},
      note         = {Funding: European Joint Programme on Rare Diseases (EJP
                      RD).},
      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.},
      cin          = {AG Michalowsky / Clinical Research (Bonn) / AG Thyrian / AG
                      Hoffmann / AG Spottke / Clinical Research (Munich) / AG
                      Schöls / Patient Studies (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)5000067 / I:(DE-2719)1011001 /
                      I:(DE-2719)1510800 / I:(DE-2719)1510600 / I:(DE-2719)1011103
                      / I:(DE-2719)1111015 / I:(DE-2719)5000005 /
                      I:(DE-2719)1011101},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      doi          = {10.1016/j.lanepe.2025.101552},
      url          = {https://pub.dzne.de/record/283018},
}