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

Genzyme

Status and phase

Completed

Phase 2

Conditions

Pompe Disease

Glycogen Storage Disease Type II

Glycogenosis 2

Acid Maltase Deficiency Disease

Treatments

Drug: Alglucosidase alfa

Study type

Interventional

Funder types

Industry

Identifiers

NCT00051935

AGLU01502

Details and patient eligibility

About

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.

Enrollment

2 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

Written informed consent must be obtained from the parent or guardian prior to performing any study related procedures;
Patient must have a clinical diagnosis of GSD-II confirmed by endogenous GAA activity below normal in at least one tissue;
Patient must have a sibling with a clinical diagnosis of GSD-II confirmed by an endogenous GAA activity below normal in at least one tissue, who is eligible for participation in this study;
Patient must have a sibling with identical GAA mutations who is eligible for participation in this study;
Patient must have a sibling with evidence of different progression of GSD-II who is eligible for participation in this study;
The patient or his/her guardian(s) must have the ability to comply with the clinical protocol.

Exclusion criteria

Patient has significant organic disease (with the exception of symptoms relating to GSD-II), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, would preclude participation in the trial;
Patient is participating in another investigational study.