patient-reported, health economic and psychosocial outcomes in friedreich ataxia

Conditions: Friedreich Ataxia

Summary: the profa study is an international, multi-centric observational and validation study to assess the patient-reported, psychosocial and economic outcomes of patients with friedreich ataxia (fa). eligible patients will be recruited from six study centers in germany, austria and france. patients will complete a baseline assessment via face-to-face interviews at the study centers and multiple momentary follow-up assessments via a mobile-health app at home daily to monthly for six months. study results will gain essential and in-depth insights into the daily life of patients with fa.

there is a lack of knowledge about the patient-reported, psychosocial, and economic impact of friedreich's ataxia (fa). the few previous studies were based on small sample sizes and annual cross-sectional data, limiting the generalizability of the results. therefore, the profa study aims 1. to assess the acceptability, feasibility, and usability of a mobile-health app for the collection of longitudinal real-time data, 2. to determine healthcare costs from a societal perspective that includes informal care productivity losses, to assess associated factors and to analyze the impact of evidence-based treatment on costs, 3. to validate measures of health-related quality of life (hrqol), to assess patients' hrqol and its fluctuation over time and identify associated factors, 4. to develop, validate and evaluate a new measure of hearing and speech disabilities' impact on patients' psychosocial health, and 5. to evaluate interaction effects between hrqol, psychosocial health and economic outcomes in patients with fa. thus, the profa study will gain a comprehensive understanding of the individual, societal, and economic burden of fa, identifying determinants of health and social life and efficient use of healthcare resources. this is crucial to improve the treatment, care, and everyday life of fa patients and their families. this validation and observational study will recruit patients from six study centers (germany, france, and austria). the data assessment will be based on (i) a baseline assessment via interviews at the study centers and (ii) a subsequent remote momentary data assessment via a mobile-health app on a daily to monthly basis for six months, covering assessments of ataxia severity, hrqol, psychosocial health, speech and hearing disabilities, health services utilization, and specific health events. descriptive and multivariate statistics will be used to describe the impact of fa on the patient-reported hrqol, psychosocial health and economic outcomes.

Eligibility criteria:
inclusion criteria: * fa confirmed by molecular genetic testing * ataxia severity of ≤30 points according to the scale of the assessment and rating of ataxia (sara) * access to a smartphone or tablet and able to operate the device * older than 12 years exclusion criteria: * lack of ability to give consent * ataxia severity \>30 according to the scale of the assessment and rating of ataxia (sara)

Keywords: health-related quality of life economic evaluation psychosocial health mobile-health app friedreich's ataxia ambulatory assessment