A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States

Objective: To describe the economic burden of Pompe disease in patients treated with enzyme replacement therapy (ERT) in the US. Methods: A retrospective cohort study (1 January 2012–30 September 2022) was conducted using the Merative™ MarketScan Research Databases. Patients with ≥2 outpatient or ≥1 inpatient claims of Pompe disease, ≥1 claim of ERT, and continuous enrollment in medical/prescription coverage for ≥90 days prior to the diagnosis date for patients ≥2 years and ≥1-month post-index were included. Patients were stratified into infantile-onset Pompe disease (IOPD) or late-onset Pompe disease (LOPD) cohorts using age at diagnosis and clinical presentation. Healthcare resource utilization and costs were evaluated over the follow-up period. Results: A total of 105 patients were included (IOPD: n = 50; LOPD: n = 55 [mean age at diagnosis: IOPD: 0.3 years, LOPD: 32.2 years; male: IOPD: 66%, LOPD: 60%]). Mean follow-up length was 914 and 987 days in the IOPD and LOPD cohorts, respectively. Forty-seven (94.0%) patients with IOPD and 49 (89.1%) with LOPD utilized ≥1 all-cause outpatient service, while 23 (46.0%) and 16 (29.0%), respectively, had ≥1 all-cause hospitalization. Mean total all-cause costs were $950,380 in patients with IOPD and $185,7823 in those with LOPD. Mean all-cause outpatient costs were $559,888 and $122,2078, while mean all-cause inpatient costs were $169,781 and $60,584 in the IOPD and LOPD cohorts, respectively. The all-cause outpatient ERT cost was $308,421 in patients with IOPD and $778,190 in those with LOPD. Conclusions: Pompe disease incurs a substantial economic burden in patients despite treatment with ERT. For both types of Pompe disease, the primary drivers of costs were outpatient- and ERT-related; however, patients with IOPD had higher inpatient and supportive care utilization and costs, whereas patients with LOPD had higher costs for outpatient services.