TY - JOUR AU - Buchholz, Maresa AU - Weber, Niklas AU - Borel, Stephanie AU - Sayah, Sabrina AU - Xie, Feng AU - Schulz, Jörg B AU - Reetz, Kathrin AU - Boesch, Sylvia AU - Klopstock, Thomas AU - Karin, Ivan AU - Schöls, Ludger AU - Grobe-Einsler, Marcus AU - Klockgether, Thomas AU - Davies, Elin Haf AU - Schmeder, Madeleine AU - Nadke, Andreas AU - Michalowsky, Bernhard TI - Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app. JO - BMJ open VL - 13 IS - 8 SN - 2044-6055 CY - London PB - BMJ Publishing Group M1 - DZNE-2023-00764 SP - e075736 PY - 2023 AB - Friedreich ataxia (FA) is the most common hereditary ataxia in Europe, characterised by progressively worsening movement and speech impairments with a typical onset before the age of 25 years. The symptoms affect the patients' health-related quality of life (HRQoL) and psychosocial health. FA leads to an increasing need for care, associated with an economic burden. Little is known about the impact of FA on daily lives and HRQoL. To fill that gap, we will assess patient-reported, psychosocial and economic outcomes using momentary data assessment via a mobile health application (app).The PROFA Study is a prospective observational study. Patients with FA (n=200) will be recruited at six European study centres (Germany, France and Austria). We will interview patients at baseline in the study centre and subsequently assess the patients' health at home via mobile health app. Patients will self-report ataxia severity, HRQoL, speech and hearing disabilities, coping strategies and well-being, health services usage, adverse health events and productivity losses due to informal care on a daily to monthly basis on the app for 6 months. Our study aims to (1) validate measurements of HRQoL and psychosocial health, (2) assess the usability of the mobile health app, and (3) use descriptive and multivariate statistics to analyse patient-reported and economic outcomes and the interaction effects between these outcomes. Insights into the app's usability could be used for future studies using momentary data assessments to measure outcomes of patients with FA.Ethical approval has been obtained from the Ethics Committee of the University Medicine of Greifswald, (BB096/22a, 26 October 2022) and from all local ethics committees of the participating study sites. Findings of the study will be published in peer-reviewed journals, presented at relevant international/national congresses and disseminated to German and French Patient Advocacy Organizations.ClinicalTrials.gov Registry (NCT05943002); Pre-results. KW - Humans KW - Adult KW - Friedreich Ataxia KW - Quality of Life KW - Mobile Applications KW - Telemedicine: methods KW - Patient Reported Outcome Measures KW - Observational Studies as Topic KW - Friedreich ataxia (Other) KW - Rare diseases (Other) KW - health and informal care (Other) KW - health economics (Other) KW - m-health app assessment (Other) KW - patient-reported outcomes (Other) KW - speech and hearing disabilities (Other) LB - PUB:(DE-HGF)16 C6 - pmid:37527887 C2 - pmc:PMC10394552 DO - DOI:10.1136/bmjopen-2023-075736 UR - https://pub.dzne.de/record/259692 ER -