A Study of rhGAA in Patients With Late-Onset Pompe Disease

Sponsor

Genzyme, a Sanofi Company (Industry)

Overall Status

Completed

CT.gov ID

NCT00250939

Collaborator

(none)

Enrollment

Location

Arm

Duration (Months)

0.2

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Pompe disease (also known as glycogen storage disease Type II) 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 Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective is to evaluate the safety, pharmacokinetics (PK) and efficacy of Myozyme treatment.

Condition or Disease	Intervention/Treatment	Phase
Pompe Disease (Late-onset) Glycogen Storage Disease Type II (GSD-II) Acid Maltase Deficiency Disease Glycogenosis 2	Biological: Myozyme	Phase 2

Study Design

Study Type:

Interventional

Actual Enrollment :

5 participants

Allocation:

Non-Randomized

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Treatment

Official Title:

Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease

Study Start Date :

Feb 1, 2005

Actual Primary Completion Date :

Jul 1, 2006

Actual Study Completion Date :

Nov 1, 2006

Arms and Interventions

Arm	Intervention/Treatment
Experimental: 1	Biological: Myozyme 20 mg/kg qow Other Names: alglucosidase alfa

Arm

Intervention/Treatment

Experimental: 1

Biological: Myozyme

20 mg/kg qow

Other Names:

alglucosidase alfa

Outcome Measures

Primary Outcome Measures

safety and PK profile rhGAA [74 weeks]
FVC [74 weeks]
MMT [74 weeks]
Effect of treatment on muscle function [74 weeks]

Eligibility Criteria

Criteria

Ages Eligible for Study:

5 Years to 18 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

patient's legally authorized guardian(s) must provide signed, informed consent prior to performing any study-related procedures; patient's signature required if patient understands informed consent
patient must have a diagnosis of Pompe disease based on deficient endogenous GAA activity or GAA gene mutations
patient must have demonstrable muscle weakness
patient must be greater than or equal to five years of age and younger than eighteen years of age
patient must be able to provide 3 reproducible FVC tests in sitting position during screening
patient must perform muscle function testing
patient must ambulate 10 meters (assistive devices permitted)
patient and legal guardian must comply with the clinical protocol

Exclusion Criteria:

patient requires the use of invasive ventilatory support
patient requires the use of noninvasive ventilatory support while awake and in an upright position
patient has received enzyme replacement therapy with GAA from any source
patient has used an investigational product within 30 days prior to study enrollment, or is currently enrolled in another clinical or observational study
patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities
Female patients pregnant, lactating or unwilling to practice birth control methods during study
Male patients unwilling to use barrier contraceptives during study