RESUMO
BACKGROUND: Pompe disease is an orphan disease for which enzyme replacement therapy (ERT) recently became available. This study aims to estimate all relevant aspects of burden of illness--societal costs, use of home care and informal care, productivity losses, and losses in health-related quality of life (HRQoL)--for adult Pompe patients only receiving supportive care. METHODS: We collected data on all relevant aspects of burden of illness via a questionnaire. We applied a societal perspective in calculating costs. The EQ-5D was used to estimate HRQoL. RESULTS: Eighty adult patients (87% of the total Dutch adult Pompe population) completed a questionnaire. Disease severity ranged from mild to severe. Total annual costs were estimated at