This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Pompe disease is a rare autosomal recessive disease caused by the deficiency of acid alpha-glucosidase (GAA), which is needed for the degradation of lysosomal glycogen. There is currently no approved, effective treatment for Pompe disease. Palliative and supportive care provides the mainstay of management. Enzyme replacement therapy may be effective in slowing or reversing symptoms of the disease or converting a more severe phenotype into a milder phenotype. Genzyme has developed recombinant human acid alpha-glucosidase (rhGAA) (MyozymeTM) as enzyme replacement therapy for the treatment of Pompe disease. The overall objective of this study is to evaluate the safety, efficacy, pharmacokinetics (PK) and pharmacodynamics (PD) of rhGAA treatment in patients with infantile-onset Pompe disease in 2 dose groups. The primary objectives of the study are: (1) to evaluate the safety profile of rhGAA; (2) to estimate, using Kaplan-Meier methodology, the proportion of patients treated with rhGAA who are alive and free of invasive ventilator support at 18 months of age, and compare the combined dose groups to a historical cohort; (3) to determine the PK/PD profile of rhGAA in patients with infantile-onset Pompe disease; and (4) to determine the effect of different doses of rhGAA on safetv and efficacv outcomes.
Showing the most recent 10 out of 570 publications
