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

To describe the economic burden of Pompe Disease in patients treated with enzyme replacement therapy (ERT) in the US. 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 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. 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. 47 (94.0%) patients with IOPD and 49 (89.1%) with LOPD utilized ≥1 all-cause outpatient services, 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. All-cause outpatient ERT cost was $308,421 in patients with IOPD and $778,190 in those with LOPD. 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.