Global Pompe Disease Registry to Track Patient Outcomes and Disease Progression Over Time

What this Trial Is About

This research aims to collect detailed information about Pompe disease, a rare genetic disorder also known as Glycogen Storage Disease Type II. The study is a global, long-term observational program designed to better understand the diseases progression, variability, and identification in patients who are either treated or untreated. It also supports regulatory requirements, product development, reimbursement, and other research purposes. Participants in the Pompe Registry are tracked over many years, up to 30 years, to observe the natural history of the disease and evaluate long-term outcomes, including the effects of treatments like alglucosidase alfa. This observational study does not involve experimental treatments but gathers data from patients worldwide to improve care strategies and recommendations. During the study, participants health information is collected retrospectively and prospectively, including clinical outcomes and disease manifestations. Researchers analyze these data to understand patient variability, disease progression, and treatment effectiveness. The registry helps develop guidance for monitoring patients and provides valuable insights to optimize Pompe disease care over an extended period.

Pompe Disease Registry Protocol