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 objective of this protocol is to provide enzyme replacement therapy with alglucosidase alfa on an expanded access basis, to severely affected patients with late-onset Pompe disease for whom there is no alternative treatment and who do not meet the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored studies currently enrolling patients with late-onset Pompe disease.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
9
20 mg/kg
Colorado Health Science Center
Aurora, Colorado, United States
Galichia Heart Hospital
Wichita, Kansas, United States
Genzyme Medical Information
Cambridge, Massachusetts, United States
Freeman Health Systems
Joplin, Missouri, United States
The Women's and Children's Hospital of Buffalo
Buffalo, New York, United States
North Shore University Hospital
Manhasset, New York, United States
Macoumb/Oakland Adult Medicine
Rochester Hills, New York, United States
Riverside Regional Medical Center
Newport News, Virginia, United States
Provide ERT with Myozyme in severly affected patients with Late-onset Pompe disease
Time frame: 52 weeks
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