Pompe's disease: Enzyme replacement therapy

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Koeberl, DD; Kishnani, PS

Published Date

  • December 1, 2007

Published In

Volume / Issue

  • 32 / 12

Start / End Page

  • 1067 - 1070

International Standard Serial Number (ISSN)

  • 0377-8282

Digital Object Identifier (DOI)

  • 10.1358/dof.2007.032.12.1158295

Citation Source

  • Scopus