000283018 001__ 283018
000283018 005__ 20251222093105.0
000283018 0247_ $$2doi$$a10.1016/j.lanepe.2025.101552
000283018 037__ $$aDZNE-2025-01430
000283018 082__ $$a610
000283018 1001_ $$0P:(DE-2719)9001510$$aGrobe-Einsler, Marcus$$b0$$eFirst author
000283018 245__ $$aPatient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
000283018 260__ $$a[Amsterdam]$$bElsevier$$c2026
000283018 3367_ $$2DRIVER$$aarticle
000283018 3367_ $$2DataCite$$aOutput Types/Journal article
000283018 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1766391913_14401
000283018 3367_ $$2BibTeX$$aARTICLE
000283018 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000283018 3367_ $$00$$2EndNote$$aJournal Article
000283018 500__ $$aFunding: European Joint Programme on Rare Diseases (EJP RD). 
000283018 520__ $$aBackground: Friedreich ataxia (FA) is the most common autosomal recessive ataxia. Little attention has been paid to FA's impact on patient-reported, psychosocial, and health-economic outcomes. This study aimed to report these outcomes across FA's disability stages 1–5. Methods: We assessed patients in Germany, France, and Austria as part of the PROFA study, a European multicenter observational study. The protocol included a study center visit followed by a remote mobile assessment capturing ataxia severity (SARA), daily living deficits (FARS-ADL), cognitive and affective impairments (CCAS), health-related quality of life (HRQoL: PROM-Ataxia short-form, EQ-5D-5L), mental well-being (WEMWBS), communication disabilities (COMATAX), and healthcare and informal care utilization. FARS disability stages were used to demonstrate outcomes with effect size measures (Eta-Squared, Cramér's V). Multivariate regression models evaluated associations between z-standardized outcomes and disability stages. Findings: One hundred one patients (mean [SD]: age 35.0 [11.5]; GAA-repeat size 657 [299]; 50.5% women) were included. Activities of daily living, HRQoL, communication disabilities, and informal care utilization worsened significantly across disability stages with moderate to high effect sizes. Cognitive-affective impairments and mental well-being showed significant associations with small effect sizes. Twenty-three patients (33.3%) received formal care, while 40 (58.0%) received informal care (mean 12.2 h/week). Omaveloxolone was used by 33 patients (32.7%). Annual healthcare costs excluding Omaveloxolone were €13,620 (payer) and €32,679 (societal perspective, including informal care and productivity losses). Interpretation: The results emphasize the multidimensional patient, societal, and economic burden of FA and the need for comprehensive care addressing physical, mental, and psychosocial health. 
000283018 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000283018 588__ $$aDataset connected to CrossRef, Journals: pub.dzne.de
000283018 7001_ $$00000-0002-8597-9937$$aBorel, Stéphanie$$b1
000283018 7001_ $$0P:(DE-2719)9002138$$aBuchholz, Maresa$$b2$$udzne
000283018 7001_ $$aSayah, Sabrina$$b3
000283018 7001_ $$aHilab, Rania$$b4
000283018 7001_ $$aPierron, Lucie$$b5
000283018 7001_ $$0P:(DE-2719)9003158$$aIskandar, Audrey$$b6$$udzne
000283018 7001_ $$aHumphries, Brittany$$b7
000283018 7001_ $$aEwenczyk, Claire$$b8
000283018 7001_ $$aHeinzmann, Anna$$b9
000283018 7001_ $$aAtencio, Mariana$$b10
000283018 7001_ $$0P:(DE-2719)9003101$$aFeldmann, Katrin$$b11$$udzne
000283018 7001_ $$0P:(DE-2719)9002174$$aMaas, Vivian$$b12$$udzne
000283018 7001_ $$0P:(DE-2719)2811327$$aFaber, Jennifer$$b13$$udzne
000283018 7001_ $$aBoesch, Sylvia$$b14
000283018 7001_ $$aIndelicato, Elisabetta$$b15
000283018 7001_ $$00000-0002-9730-9228$$aReetz, Kathrin$$b16
000283018 7001_ $$aSchulz, Jörg B.$$b17
000283018 7001_ $$0P:(DE-2719)9003293$$aBischoff, Almut T.$$b18$$udzne
000283018 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b19$$udzne
000283018 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b20$$udzne
000283018 7001_ $$aMinnerop, Martina$$b21
000283018 7001_ $$aTimmann, Dagmar$$b22
000283018 7001_ $$aDavies, Elin H.$$b23
000283018 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b24$$udzne
000283018 7001_ $$aDurr, Alexandra$$b25
000283018 7001_ $$aXie, Feng$$b26
000283018 7001_ $$0P:(DE-2719)2810763$$aMichalowsky, Bernhard$$b27$$eLast author$$udzne
000283018 773__ $$0PERI:(DE-600)3055963-7$$a10.1016/j.lanepe.2025.101552$$gVol. 61, p. 101552 -$$p101552$$tThe lancet / Regional health. Europe$$v61$$x2666-7762$$y2026
000283018 8564_ $$uhttps://pub.dzne.de/record/283018/files/DZNE-2025-1430.pdf$$yRestricted
000283018 8564_ $$uhttps://pub.dzne.de/record/283018/files/DZNE-2025-1430.pdf?subformat=pdfa$$xpdfa$$yRestricted
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9001510$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b0$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9002138$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b2$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9003158$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b6$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9003101$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b11$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9002174$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b12$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811327$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b13$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9003293$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b18$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810704$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b19$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810795$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b20$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810314$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b24$$kDZNE
000283018 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810763$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b27$$kDZNE
000283018 9131_ $$0G:(DE-HGF)POF4-353$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vClinical and Health Care Research$$x0
000283018 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bLANCET REG HEALTH-EU : 2022$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2023-04-12T14:52:56Z
000283018 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2023-04-12T14:52:56Z
000283018 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Anonymous peer review$$d2023-04-12T14:52:56Z
000283018 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)1180$$2StatID$$aDBCoverage$$bCurrent Contents - Social and Behavioral Sciences$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0130$$2StatID$$aDBCoverage$$bSocial Sciences Citation Index$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)9920$$2StatID$$aIF >= 20$$bLANCET REG HEALTH-EU : 2022$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2024-12-20
000283018 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2024-12-20
000283018 9201_ $$0I:(DE-2719)5000067$$kAG Michalowsky$$lPatient-Reported Outcomes and Health Economics Research$$x0
000283018 9201_ $$0I:(DE-2719)1011001$$kClinical Research (Bonn)$$lClinical Research Coordination$$x1
000283018 9201_ $$0I:(DE-2719)1510800$$kAG Thyrian$$lInterventional Health Care Research (IHCR)$$x2
000283018 9201_ $$0I:(DE-2719)1510600$$kAG Hoffmann$$lTranslational Health Care Research$$x3
000283018 9201_ $$0I:(DE-2719)1011103$$kAG Spottke$$lClinical Research Platform (CRP)$$x4
000283018 9201_ $$0I:(DE-2719)1111015$$kClinical Research (Munich)$$lClinical Research (Munich)$$x5
000283018 9201_ $$0I:(DE-2719)5000005$$kAG Schöls$$lClinical Neurogenetics$$x6
000283018 9201_ $$0I:(DE-2719)1011101$$kPatient Studies (Bonn)$$lPatient Studies (Bonn)$$x7
000283018 980__ $$ajournal
000283018 980__ $$aEDITORS
000283018 980__ $$aVDBINPRINT
000283018 980__ $$aI:(DE-2719)5000067
000283018 980__ $$aI:(DE-2719)1011001
000283018 980__ $$aI:(DE-2719)1510800
000283018 980__ $$aI:(DE-2719)1510600
000283018 980__ $$aI:(DE-2719)1011103
000283018 980__ $$aI:(DE-2719)1111015
000283018 980__ $$aI:(DE-2719)5000005
000283018 980__ $$aI:(DE-2719)1011101
000283018 980__ $$aUNRESTRICTED