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, efficacy, and pharmacokinetics (PK) of Myozyme treatment in patients with late-onset Pompe disease as compared to placebo.

Condition	Intervention	Phase
Pompe Disease (Late-onset) Glycogen storage disease type II (GSD-II) Acid Maltase Deficiency Disease Glycogenosis 2	Drug: Myozyme (alglucosidase alfa)	Phase III

Further Study Details: 

Primary Outcomes: 1. to evaluate the safety profile of Myozyme; 2. to determine the effect of Myozyme treatment on as measured by the Six Minute Walk Test (6MWT) at Week 52; 3. to determine the effect of Myozyme treatment as measured by Forced Vital Capacity at Week 52; 4. to determine the PK profile of Myozyme
Expected Total Enrollment:  72

Ages Eligible for Study:  8 Years and above,  Genders Eligible for Study:  Both

Criteria

Inclusion Criteria:

• patient must provide signed, informed consent prior to performing any study-related procedures.
• patient must have a diagnosis of Pompe disease based on deficient endogenous GAA activity in cultured skin fibroblasts of less than or equal to 40% of the normal mean of the testing laboratory and 2 confirmed GAA gene mutations;
• patient must be greater than or equal to 8 years of age at the time of enrollment;
• patient must have muscle weakness in the lower limbs based on unilateral QMT of the knee extensors defined as < 80% of the predicted value based on age, gender and body size
• patient must be able to tolerate pulmonary function testing (PFT) and muscle testing in the supine position;
• patient must be able to provide reproducible muscle and pulmonary function test results;
• patient must have an FVC of greater than or equal to 30% and < 80% predicted in the upright;
• patient must have an FEV1/FVC value of greater than or equal to 70% predicted in the upright position;
• patient must have a postural drop in FVC (liters) of at least 10% from the upright to the supine position;
• patient must have testable muscle in bilateral knee flexors and knee extensors, and testable muscle in bilateral elbow flexors and elbow extensors;
• patient must be able to ambulate 40 meters (approximately 130 feet) in 6 minutes on each of 2 consecutive tests performed on the same day (use of assistive devices such as a walker, cane, or crutches, is permitted);
• patient and patient’s legal guardian if patient must have the ability to comply with the clinical protocol;
• A female patient of childbearing potential must have a negative pregnancy test at Baseline. Note: All female patients of childbearing potential and sexually mature males must use a medically accepted method of contraception throughout the study.

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 study which involves clinical evaluations;
• 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;
• patient has a major congenital anomaly.

Please refer to this study by ClinicalTrials.gov identifier  NCT00158600

Medical Information      800-745-4447    medinfo@genzyme.com
Medical Information      617-252-7832    medinfo@genzyme.com

Missouri
      Washington University Medical Center, St. Louis,  Missouri,  63110,  United States; Recruiting

Study chairs or principal investigators

Deya Corzo, M.D.,  Study Director,  Genzyme   

Study ID Numbers:  AGLU02704
Last Updated:  September 11, 2005
Record first received:  September 8, 2005
ClinicalTrials.gov Identifier:  NCT00158600
Health Authority: United States: Food and Drug Administration
ClinicalTrials.gov processed this record on 2005-09-13