Clinical Trial: A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings
Brief 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.
Detailed Summary:
Sponsor: Genzyme, a Sanofi Company
Current Primary Outcome:
- Evaluate safety, pharmacokinetics and pharmacodynamics [ Time Frame: 52 weeks ]
- Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations [ Time Frame: 52 weeks ]
- Evaluate differences in skeletal muscle expression prior to and after ERT [ Time Frame: 52 weeks ]
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Sanofi
Dates:
Date Received: January 17, 2003
Date Started: January 2003
Date Completion:
Last Updated: February 4, 2014
Last Verified: February 2014
