NCT00051935

A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II).

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 2 (actual)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Glycogen Storage Disease Type II
• Pompe Disease
• Acid Maltase Deficiency Disease
• Glycogenosis 2

Interventions

Type	Name	Description
DRUG	Alglucosidase alfa	20 mg/kg (qow); intravenous

Timeline

• Start date: 2003-01-01
• Primary completion: 2003-04-01
• Completion: 2003-10-01
• First posted: 2003-01-22
• Last updated: 2014-02-05

Locations

1 site across 1 country: United States