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

NCT ID: NCT00051935

Last Updated: 2014-02-05

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 2 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2003-01-31
• Study Completion Date: 2003-10-31

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.

Conditions

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

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

1

Group Type: EXPERIMENTAL

Alglucosidase alfa

Intervention Type: DRUG

20 mg/kg (qow); intravenous

Interventions

Alglucosidase alfa

20 mg/kg (qow); intravenous

Intervention Type: DRUG

Eligibility Criteria

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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: lead

Responsible Party

Genzyme Corporation

Principal Investigators

Medical Monitor

Role: STUDY_DIRECTOR

Genzyme, a Sanofi Company

Locations

Saint Peter's University Hospital

New Brunswick, New Jersey, United States

Countries

United States

Other Identifiers

AGLU01502

Identifier Type: -

Identifier Source: org_study_id