The Pompe Registry

摘要

Disease registries seek to provide a useful clinical resource of deidentified information of particular relevance to rare, orphan diseases; registry data complement data obtained from other sources including clinical trials patient surveys, and cross-sectional natural-history cohort studies. Increasingly, registries are becoming a regulatory Requirement in the era of enzyme replacement therapy (ERT), building on the development of successful databases for other lysosomal storage disorders. The Pompe Registry, launched in 2004, is starting to generate novel demographic and longitudinal data on Pompe disease and its management, and will address the role of ERT in clinical practice.