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

Pompe Disease Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00025896
• Other study ID #: AGLU-001-00
• Status: Completed
• Phase: Phase 2
• First received: October 31, 2001
• Last updated: November 12, 2014
• Start date: May 2001
• Est. completion date: September 2002

Study information

• Verified date: November 2014
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 8
• Est. completion date: September 2002
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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 (-)

Study Design

Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Acid Maltase Deficiency Disease
• Deficiency Diseases
• Glycogen Storage Disease
• Glycogen Storage Disease Type II
• Glycogenosis 2
• Pompe Disease

Intervention

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

Locations

Country	Name	City	State
United States	Duke University Medical Center	Durham	North Carolina

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Country where clinical trial is conducted

United States,