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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00053573
Recruitment Status : Completed
First Posted : February 3, 2003
Last Update Posted : February 5, 2014
Information provided by:

January 31, 2003
February 3, 2003
February 5, 2014
February 2003
July 2006   (Final data collection date for primary outcome measure)
  • 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 ]
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Complete list of historical versions of study NCT00053573 on Archive Site
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rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)
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
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.
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Phase 1
Phase 2
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
  • Glycogen Storage Disease Type II
  • Pompe Disease
  • Acid Maltase Deficiency Disease
  • Glycogenosis 2
Biological: Myozyme
20 mg/kg to 40 mg/kg qow
Other Name: Alglucosidase alfa
Experimental: 1
Intervention: Biological: Myozyme
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Same as current
November 2006
July 2006   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
6 Months to 36 Months   (Child)
Contact information is only displayed when the study is recruiting subjects
France,   Israel,   United Kingdom,   United States
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Medical Monitor, Genzyme Corporation
Genzyme, a Sanofi Company
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Study Director: Medical Monitor Genzyme, a Sanofi Company
February 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP