Towards a molecular therapy for glycogen storage disease type II (Pompe disease)

Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a fatal genetic muscle disorder caused by a deficiency of acid a-glucosidas e, a glycogen-degrading lysosomal enzyme. Currently, there is no treatment for this fatal disorder. However, several lines of research suggest the pos sibility of future treatment. Enzyme replacement strategies hold the greate st hope for patients currently affected by GSD-II, but future strategies co uld include in vivo or ex vivo gene therapy approaches and/or mesenchymal s tem cell or bone-marrow transplantation approaches. Each of the approaches might eventually be combined to further improve the overall clinical effica cy of any one treatment regimen. The lessons learned from GSD-II research w ill also benefit a great number of individuals affected by other genetic di sorders.