A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
Status:
Completed
Trial end date:
2003-10-01
Target enrollment:
Participant gender:
Summary
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the
body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break
down glycogen (a stored form of sugar) within specialized structures called lysosomes. In
patients with GSD-II, an excessive amount of glycogen accumulates and is stored in various
tissues, especially heart and skeletal muscle, which prevents their normal function. This
study is being conducted to evaluate the safety, pharmacokinetics, pharmacodynamics and
efficacy of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme
replacement therapy for a pair of siblings with GSD-II. To be eligible for this study, a
patient must have a confirmed diagnosis of GSD-II and have a sister or brother who also has a
confirmed diagnosis of GSD-II.