AGLU00100: Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease

This study has been completed.

Sponsored By:	Genzyme
Information Provided By:	Genzyme
ClinicalTrials.gov Identifier:	NCT00025896

Purpose

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.

Condition	Intervention	Phase
Pompe Disease Glycogen Storage Disease Type II Acid Maltase Deficiency Disease Glycogenosis 2	Drug: recombinant human acid alpha-glucosidase (rhGAA)	Phase II

Study Type: Interventional

Study Design: Treatment, Non-Randomized, Open Label, Historical Control, Single Group Assignment, Safety/Efficacy Study

Official Title: A Prospective Multinational, Multicenter, Clinical Trial of the Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase (rhGAA) in Cross-Reacting Immunologic Material-Positive Patients with Classical Infantile Pompe Disease

Further Study Details:

Expected Total Enrollment: 8

Study start: May 2001; Study completion: November 2002

Eligibility

Genders Eligible for Study: Both

Criteria

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 (-)

Location Information

North Carolina
Duke University Medical Center, Durham, North Carolina, 27710, United States

More Information

Myozyme® FDA-approved labeling information

Study ID Numbers: AGLU00100
ClinicalTrials.gov Identifier: NCT00025896
Health Authority: United States: Food and Drug Administration