Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease

Genzyme

Status and phase: Completed; Phase 2

Conditions: Pompe Disease; Glycogen Storage Disease Type II; Glycogenosis 2; Acid Maltase Deficiency Disease

Treatments: Drug: recombinant human acid alpha-glucosidase (rhGAA)

Study type: Interventional

Funder types: Industry

Identifiers

NCT00025896

AGLU-001-00

Details and patient eligibility

About

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.

Sex: All

Volunteers: No Healthy Volunteers

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 (-)

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)