Acid Maltase Deficiency Disease, Glycogenosis 2, Glycogen Storage Disease Type II, Pompe Disease
Conditions
Brief summary
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 infants with severe cases of Pompe disease (called Classical Infantile Pompe disease), an excessive amount of glycogen accumulates and is stored in various tissues, especially heart, skeletal muscle, and liver, which prevents their normal function. This study being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with Classical Infantile Pompe disease who have a small, but inactive, amount of natural GAA enzyme present in their bodies (called Cross-Reacting Immunologic Material-Positive or CRIM (+) patients), will be studied.
Interventions
DRUGrecombinant human acid alpha-glucosidase (rhGAA)
Sponsors
Genzyme, a Sanofi Company
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Clinical diagnosis of Classical Infantile Pompe Disease * endogenous GAA activity \< 1.0% * cardiomegaly * cardiomyopathy * CRIM (+) * ability to comply with the clinical protocol which will require extensive clinical evaluations
Exclusion criteria
* respiratory insufficiency * cardiac failure * major congenital abnormality * any other medical condition that could potentially decrease survival * CRIM (-)
Countries
United States
Outcome results
None listed