Impaired clearance of accumulated lysosomalglycogen in advanced Pompe disease despitehigh-level vector-mediated transgene expression

摘要

Background Infantile-onset glycogen storage disease type II (GSD-II; Pompedisease; MIM 232300) causes death early in childhood from cardiorespiratoryfailure in the absence of effective treatment, whereas late-onset Pompedisease causes a progressive skeletal myopathy. The limitations of enzymereplacement therapy could potentially be addressed with adeno-associatedvirus (AAV) vector-mediated gene therapy.