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rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: January 31, 2003
Last updated: February 4, 2014
Last verified: February 2014
Glycogen Storage Disease Type II ("GSD-II"; also known as 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 patients with GSD-II, 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 GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.

Condition Intervention Phase
Glycogen Storage Disease Type II Pompe Disease Acid Maltase Deficiency Disease Glycogenosis 2 Biological: Myozyme Phase 1 Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • Evaluate the safety of Myozyme [ Time Frame: 52 weeks ]
  • Determine proportion of patients alive over the course of treatment [ Time Frame: 52 weeks ]
  • PK profile of MZ [ Time Frame: 52 weeks ]
  • PD profile of MZ [ Time Frame: 52 weeks ]

Enrollment: 20
Study Start Date: February 2003
Study Completion Date: November 2006
Primary Completion Date: July 2006 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 1 Biological: Myozyme
20 mg/kg to 40 mg/kg qow
Other Name: Alglucosidase alfa


Ages Eligible for Study:   6 Months to 36 Months   (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 a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age
  • The patient is greater than 6 months old and less than or equal to 36 months old at the time of 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:

  • Signs and symptoms of cardiac failure and an ejection fraction less than 40%
  • Major congenital abnormality
  • Clinically significant organic disease (with the exception of symptoms relating to GSD-II), 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: NCT00053573

United States, Florida
University of Florida College of Medicine
Gainesville, Florida, United States, 32610
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
Pediatrique Hopital de Brousse
Lyon, France
Rambam Medical Center
Haifa, Israel, 31096
United Kingdom
Royal Manchester Children's Hospital
Manchester, United Kingdom, M27 4 HA
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: NCT00053573     History of Changes
Other Study ID Numbers: AGLU01702
Study First Received: January 31, 2003
Last Updated: February 4, 2014

Keywords provided by Sanofi:
Glycogen Storage Disease Type II
Pompe Disease

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Metabolic Diseases
Glycogen Storage Disease
Deficiency Diseases
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
Nutrition Disorders processed this record on September 21, 2017