A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

Phase 2

Completed

• Conditions: Glycogen Storage Disease Type II
• Interventions: Biological: Myozyme

• Registration Number: NCT00059280
• Lead Sponsor: Genzyme, a Sanofi Company

Brief Summary

Pompe disease (also known as glycogen storage disease type II, "GSD-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. This study is 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 infantile-onset Pompe disease who are less than or equal to 6 months old will be studied.

Detailed Description

Not available

Study Timeline

• Study Start: 2003-04
• Study First Submitted: 2003-04-22
• Study First Submitted QC: 2003-04-22
• Study First Posted: 2003-04-23
• Primary Completion: 2005-06
• Study Completion: 2005-09
• Status Verified: 2006-07
• Last Update Submitted: 2014-02-04
• Last Update Posted: 2014-02-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 16

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: FACTORIAL

Arm && Interventions

Group	Intervention	Description
1	Myozyme	-

Primary Outcome Measures

Name	Time	Method
Evaluate the safety profile of MZ	52 weeks
To estimate the proportion of patients treated w/ MZ who were alive and free of ventilator support at 12 months of age; compared to historical cohort	52 weeks
Determine PK/PD profile of MZ	52 weeks
Determine effect of different doses of MZ on safety and efficacy	52 weeks

Trial Locations

Locations (8)

Royal Manchester Children's Hospital; 🇬🇧 Manchester, United Kingdom

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan

University of Utah Medical Center; 🇺🇸 Salt Lake City, Utah, United States

Pediatrique Hopital deBrousse; 🇫🇷 Lyon, France

Duke University Medical Center; 🇺🇸 Durham, North Carolina, United States

Children's Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States

University of Florida College of Medicine; 🇺🇸 Gainesville, Florida, United States

Rambam Medical Center; 🇮🇱 Haifa, Israel