A new observational clinical trial will collect data on the patient-reported economic, health, and psychosocial impacts of Friedreich ataxia (FA).

“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 [patients with FA] and their families,” the investigators wrote.

Read more about FA prognosis

During the study, patients will be asked to attend an initial in-person interview followed by multiple, short follow-up assessments at home through the mobile-health app.

These follow-up assessments will be performed at intervals ranging from daily to monthly for 6 months and will include assessments of psychosocial health, ataxia severity, health-related quality of life (HRQoL), and economic outcomes.

The primary outcome measures include assessing the acceptability and usability of a mobile-health app for remote monitoring, total societal costs, HRQoL and variations in HRQoL at 1, 3, 5, and 6 months, and psychosocial health impacts of communication handicaps caused by disease-related speech and hearing disabilities assessed monthly.

The data collected by the study will be analyzed through descriptive and multivariate statistics to assess the impact of FA on the patient’s economic, HRQoL, and psychosocial health outcomes. There is a lack of knowledge about these impacts and the few previous studies involved small sample sizes with annual cross-sectional data which limited their ability to be generalizable, the investigators noted.

The study will have an estimated enrollment of 200 patients from 6 study centers located in Germany, Austria, and France. The study is open to patients with FA who are at least 12 years of age with Scale of the Assessment and Rating of Ataxia score of less than or equal to 30.

The study is now recruiting and has an estimated primary completion date of August 2024 with study completion estimated for October 2024.


Patient-reported, health economic and psychosocial outcomes in Friedreich ataxia (PROFA). ClinicalTrials.gov. Updated July 12, 2023. Accessed July 23, 2023.