A Global Prospective Observational Registry of Patients With Pompe Disease

POM-005

This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are: * To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients * To evaluate the long-term real-world effectiveness of Pompe disease treatments * To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs) * To describe the natural history of untreated Pompe disease

2024-02-16

2034-12-20

2034-12-20

Recruiting

500

Inclusion Criteria: * Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping Exclusion Criteria: * Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)

{'studyType': 'OBSERVATIONAL', 'patientRegistry': True, 'targetDuration': '5 Years', 'designInfo': {'observationalModel': 'COHORT', 'timePerspective': 'PROSPECTIVE'}, 'enrollmentInfo': {'count': 500, 'type': 'ESTIMATED'}}

2024-04-17