PROFA: Patient-reported, health economic and psychosocial outcomes in Friedreich Ataxia

Friedreich ataxia (FA) is the most common hereditary ataxia in Europe characterized by muscle weakness, sensory loss, imbalance, poor coordination and speech problems. Typical onset is before the age of 25 years. FA is associated with reduced quality of life and social inclusion and increased need for care, causing a tremendous psychosocial and economic burden. With this study, we aim to assess patient-reported and psychosocial outcomes as well as the economic impact of FA. The study will be conducted in six study centers (Germany, France, Austria) which are part of a large European Friedreich Ataxia Consortium. To gain in-depth insights into the everyday life of patients with FA, we will acquire patient-reported, health economic, and psychosocial data in real time using an e-health app. We will study (1) the acceptability, feasibility, and usability of the e-health app as a remote monitoring real-time data assessment tool, (2) the total societal costs, associated factors (cost drivers), and the impact of evidence-based treatments on costs, (3) the quality of life in FA, its associated factors and fluctuation, (4) the psychosocial impact of the communication handicap caused by speech and hearing disabilities as well as (5) interaction effects between these outcomes. This study will gain a comprehensive understanding of the economic, humanistic and societal burden of FA and identify determinants of health and social life and efficient use of healthcare resources, which is crucial to improve treatment, care, and everyday life of FA patients and their families.