Pompe's disease: Enzyme replacement therapy

The approval of Myozyme® (alglucosidase alfa; Genzyme) represented the first significant advance in therapy for Pompe's disease. Pompe's disease is the inherited deficiency of acid α-glucosidase (GAA), and hence the rationale for treatment with Myozyme®, a form of recombinant human (rh)GAA. Previously, the natural history of infantile Pompe's disease featured rapid progression of hypertrophic and dilated cardiomyopathy to death from cardiorespiratory failure by 1 year of age. The course of infantile Pompe's disease was significantly altered by enzyme replacement therapy (ERT) with rhGAA, which improved survival and ventilator-free survival, as well as reversing cardiomyopathy and improving motor development. Limitations of ERT include high dose requirements to treat the large skeletal muscle mass, suboptimal receptor-mediated uptake and complicating antibody responses to rhGAA therapy in a subset of patients. A randomized trial in late-onset Pompe's disease is under way, as an improvement in motor and pulmonary function has been reported in small trials. Copyright © 2007 Prous Science.

Duke Scholars

Author Dwight D. Koeberl Pediatrics, Medical Genetics

Author Priya Sunil Kishnani Pediatrics, Medical Genetics