Background
Pompe disease is a rare, multisystemic, heterogeneous disorder characterized by progressive loss of muscle and respiratory function, broadly classified as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). Treatment for Pompe disease involves recurrent enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (GAA). Continued collection of real-world data for available therapies is pivotal to understanding their long-term safety and effectiveness. This publication aims to highlight the important contributions the global, prospective, observational registry, POM-005 (followME Pompe Journey, NCT06121011), will make to assessing clinical outcomes in people living with Pompe disease, regardless of current/previous therapy status.
Study design
POM-005 will include people with IOPD or LOPD based on documented GAA enzyme deficiency and/or GAA genotyping, regardless of time since diagnosis, and data from a long-term cohort of patients from cipaglucosidase alfa plus miglustat clinical trials and early access programs who continued receiving therapy after local approval. Patients currently receiving investigational therapy for Pompe disease in a clinical trial, compassionate-use program, or expanded-use program are ineligible. Briefly, registry objectives are to evaluate long-term safety of Pompe disease treatments, including frequency of infusion-associated reactions and pregnancy exposures; to evaluate long-term real-world effectiveness of Pompe disease treatments, including impact on biomarkers, motor function, pulmonary function, health-related quality of life (HRQoL) and patient-reported outcomes; and to describe the natural history of untreated Pompe disease. POM-005 will be conducted at approximately 100 study sites globally with an anticipated 500 participants (first participant enrolled: February 2024; estimated study completion: December 2034). Participants will be followed prospectively for ≥5 years; data collected at enrollment will include historical data for ≤5 years prior. Findings from POM-005 will contribute to knowledge of real-world long-term safety and effectiveness of Pompe disease treatments and their impact on HRQoL. Supported by Amicus Therapeutics, Inc.