Pompe disease (glycogen storage disease type II;acid maltase deficiency;MIM 232300) is a myopathy that results from acid a-glucosidase (GAA) deficiency in striated and smooth muscle. The limitations of enzyme replacement therapy with recombinant human GAA have prompted the preclinical development of gene therapy for Pompe disease. The goal of this application is to launch a clinical trial of gene therapy in adults with Pompe disease. Activities will include establishing multiple sites to recruit adequate numbers of subjects for Phase I and II clinical trials;develop a study protocol;prepare the institutional review board protocol;obtain institutional biosafety committee approval;develop a recruitment plan for potential participants;prepare all documents for the filing of an investigational new drug (IND) application;develop a safety monitoring plan to minimize risk, develop a system for reporting adverse events;and to formulate a budget and timeline for conduct and completion of the clinical trial. This clinical trial planning project will lead to an ND being submitted to the Food and Drug Administration for gene therapy in Pompe disease.
