OBJECTIVES: Pompe disease is a rare severe genetic multisystemic disorder with substantial clinical and economic burden. It is one of the first genetic muscle disease that benefited from an innovative therapy, with enzyme replacement therapy (ERT) more than 15 years ago. This retrospective analysis of the French medical information databases to estimate the number of patients with Pompe disease receiving ERT with alglucosidase alfa (myozyme®), to describe their characteristics and to estimate hospitalization costs.

METHODS: Cases of Pompe disease were identified using the database of expensive drugs. All patients with at least one hospitalization for ERT (myozyme®) in France in 2019 were retained. All hospital stays in 2019 were extracted and costs were estimated from the French social security system’ perspective using published official French tariffs in 2022.

RESULTS: A total of 165 patients, 37 patients with classic infantile-onset Pompe disease (IOPD) and 128 patients with late-onset Pompe disease (LOPD) were analysed, with a mean age of 43.7 years. Nearly 30% of patients were dependent on medical devices. The annual hospital cost per patient was €173,994 in patients with IOPD and €314,770 in patients with LOPD.

CONCLUSIONS: The study generated robust real-world data to assess the hospital cost of Pompe disease in patients receiving myozyme®. With 4,195 stays in 2019 for 165 patients, the clinical burden induced by Pompe disease is considerable, but essential for patients.