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

Sponsor

Genzyme, a Sanofi Company (Industry)

Overall Status

Completed

CT.gov ID

NCT00051935

Collaborator

(none)

Enrollment

Location

Arm

Duration (Months)

0.2

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Glycogen Storage Disease Type II Pompe Disease Acid Maltase Deficiency Disease Glycogenosis 2	Drug: Alglucosidase alfa	Phase 2

Study Design

Study Type:

Interventional

Actual Enrollment :

2 participants

Allocation:

Non-Randomized

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Treatment

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 With Glycogen Storage Disease Type II (GSD-II).

Study Start Date :

Jan 1, 2003

Actual Primary Completion Date :

Apr 1, 2003

Actual Study Completion Date :

Oct 1, 2003

Arms and Interventions

Arm	Intervention/Treatment
Experimental: 1	Drug: Alglucosidase alfa 20 mg/kg (qow); intravenous

Arm

Intervention/Treatment

Experimental: 1

Drug: Alglucosidase alfa

20 mg/kg (qow); intravenous

Outcome Measures

Primary Outcome Measures

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]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts 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.