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

Phase 2

Completed

• Conditions: Glycogen Storage Disease Type II; Pompe Disease; Acid Maltase Deficiency Disease; Glycogenosis 2
• Interventions: Drug: Alglucosidase alfa

• Registration Number: NCT00051935
• Lead Sponsor: Genzyme, a Sanofi Company

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 Description

Not available

Study Timeline

• Study Start: 2003-01
• Study First Submitted: 2003-01-17
• Study First Submitted QC: 2003-01-21
• Study First Posted: 2003-01-22
• Primary Completion: 2003-04
• Study Completion: 2003-10
• Status Verified: 2014-02
• Last Update Submitted: 2014-02-04
• Last Update Posted: 2014-02-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2

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.

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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.

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
1	Alglucosidase alfa	-

Primary Outcome Measures

Name	Time	Method
Evaluate safety, pharmacokinetics and pharmacodynamics	52 weeks
Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations	52 weeks
Evaluate differences in skeletal muscle expression prior to and after ERT	52 weeks

Trial Locations

Locations (1)

Saint Peter's University Hospital; 🇺🇸 New Brunswick, New Jersey, United States