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

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: April 22, 2003
Last updated: February 4, 2014
Last verified: July 2006
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.

Condition Intervention Phase
Glycogen Storage Disease Type II
Biological: Myozyme
Phase 2
Phase 3

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Factorial Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: An Open-label, Multicenter, Multinational Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Recombinant Human Acid Alpha-glucosidase Treatment in Patients Less Than 6 Months Old With Infantile-onset Pompe Disease

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • Evaluate the safety profile of MZ [ Time Frame: 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 [ Time Frame: 52 weeks ]
  • Determine PK/PD profile of MZ [ Time Frame: 52 weeks ]
  • Determine effect of different doses of MZ on safety and efficacy [ Time Frame: 52 weeks ]

Enrollment: 16
Study Start Date: April 2003
Study Completion Date: September 2005
Primary Completion Date: June 2005 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 1 Biological: Myozyme
20 mg/kg qow or 40mg/kg qow
Other Name: Alglucosidase alfa


Ages Eligible for Study:   up to 26 Weeks   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion criteria:

  • The patient or the patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed;
  • The patient must have clinical symptoms (documented in his or her medical record) of infantile-onset Pompe disease. In addition, the patient must have: a. an endogenous GAA activity less than 1% of the mean of the normal range as assessed in cultured skin fibroblasts; AND b. cardiomyopathy (LVMI greater than 65 g/m2) by echocardiography;
  • The patient must be no older than 26 weeks and 0 days, when he/she receives the first dose of rhGAA;
  • The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol.

Exclusion criteria:

  • Symptoms of respiratory insufficiency, including: a. Oxygen saturation less than 90% in room air as measured by pulse oximetry; OR b. venous PCO2 greater than 55 mmHg on room air OR arterial PCO2 greater than 40 mmHg on room air; c. any ventilator use at the time of enrollment;
  • Major congenital abnormality;
  • Clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival;
  • Use of any investigational product within 30 days prior to study enrollment;
  • Received enzyme replacement therapy with GAA from any source.
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Please refer to this study by its identifier: NCT00059280

United States, Florida
University of Florida College of Medicine
Gainesville, Florida, United States, 32610-00266
United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
United States, Ohio
Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
United States, Utah
University of Utah Medical Center
Salt Lake City, Utah, United States, 84132
Pediatrique Hopital deBrousse
Lyon, France
Rambam Medical Center
Haifa, Israel, 31096
National Taiwan University Hospital
Taipei, Taiwan, 100
United Kingdom
Royal Manchester Children's Hospital
Manchester, United Kingdom
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00059280     History of Changes
Other Study ID Numbers: AGLU01602
Study First Received: April 22, 2003
Last Updated: February 4, 2014

Keywords provided by Sanofi:
Pompe disease
Glycogen storage disease type II
Acid maltase deficiency disease
Glycogenosis 2

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Glycogen Storage Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases processed this record on April 25, 2017