PROFA

Background and aims

Friedreich's ataxia is the most common inherited ataxia disease in Europe, with an estimated prevalence of 2 to 4 cases per 100 000 people. A genetic mutation underlies almost all Friedreich's ataxia disorders. They are characterized by muscle weakness, balance disorders, coordination difficulties, loss of sensibility, and speech disorders (dysarthria), among other symptoms. The clinical onset of Friedreich's ataxia very often occurs around puberty. However, in a few cases, the symptoms of Friedreich's ataxia also develop in adulthood. In its typical form, Friedreich's ataxia leads to severe impairment in early adulthood with significant functional impairment and wheelchair dependence. The increasing functional deficits in people with FA are therefore associated with a reduced health-related quality of life and a growing need for care and support. However, there is little evidence on the impact of Friedreich's ataxia on health-related quality of life, psychosocial health, and health care utilization and costs.

The PROFA collaborative project aims to investigate the impact of Friedreich's ataxia on patient-related, health economic, and psychosocial outcomes using a patient-centred e-health app for outpatient data collection (self-reported data collection via an app). In doing so, important and profound insights into the everyday life of patients with Friedreich's ataxia will be gained. Based on these findings, improvements in the treatment, care and everyday life of those affected will be derived.