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

ObjectiveTo describe the disease burden in patients with Pompe disease treated with enzyme replacement therapy (ERT) in the US as defined by comorbid conditions, supportive services, and treatment patterns.MethodsA retrospective cohort study (01/01/2012-09/30/2022) was conducted using the Merative™ MarketScan Research Databases. Inclusion criteria were: ≥ 2 outpatient or ≥1 inpatient claims of Pompe disease, ≥ 1 claim of ERT, and continuous enrollment in medical/prescription coverage for ≥90 days before diagnosis date for patients ≥2 years and ≥1-month post-index date. Patients were stratified into infantile-onset Pompe disease (IOPD) or late-onset Pompe disease (LOPD) cohorts based on age at diagnosis and clinical presentation. Key comorbidities, supportive services, and treatment modifications were presented as cumulative incidence.ResultsA total of 105 patients were included (IOPD: n = 50; LOPD: n = 55). For IOPD and LOPD groups, the 12-month cumulative incidence was 84.5% and 79.4% for respiratory, 57.4% and 54.3% for ambulatory, 67.8% and 33.4% for gastrointestinal, and 16.9% and 28.7% for cardiovascular comorbidities, respectively; 12-month cumulative incidence was 66.9% and 31.8% for physical therapy, 59.5% and 3.9% for speech therapy, 48.6% and 1.8% for immune tolerance induction or intravenous immunoglobulin, 47.3% and 11.2% for nutritional therapy, 15.1% and 17.0% for respiratory support, 27.8% and 3.7% for occupational therapy, and 8.3% and 11.1% for ambulatory support, respectively. Fourteen (IOPD: n = 2; LOPD: n = 12) patients switched ERT therapy, and 21 (IOPD: n = 14; LOPD: n = 7) had ≥1 dose modification.ConclusionsPatients with Pompe disease demonstrate substantial comorbidity burden and utilization of supportive services despite ERT treatment.