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

Genzyme

Status and phase

Completed

Phase 2

Conditions

Pompe Disease (Late-onset)

Glycogenosis 2

Acid Maltase Deficiency Disease

Glycogen Storage Disease Type II (GSD-II)

Treatments

Biological: Myozyme

Study type

Interventional

Funder types

Industry

Identifiers

NCT00250939

AGLU02804

Details and patient eligibility

About

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.

Enrollment

5 patients

Sex

All

Ages

5 to 18 years old

Volunteers

No 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