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A Study of rhGAA in Patients With Late-Onset 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: NCT00250939
Recruitment Status : Completed
First Posted : November 9, 2005
Last Update Posted : February 6, 2014
Information provided by:

Brief Summary:
Pompe disease (also known as glycogen storage disease Type 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. The overall objective is to evaluate the safety, pharmacokinetics (PK) and efficacy of Myozyme treatment.

Condition or disease Intervention/treatment Phase
Pompe Disease (Late-onset) Glycogen Storage Disease Type II (GSD-II) Acid Maltase Deficiency Disease Glycogenosis 2 Biological: Myozyme Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 5 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease
Study Start Date : February 2005
Actual Primary Completion Date : July 2006
Actual Study Completion Date : November 2006

Arm Intervention/treatment
Experimental: 1 Biological: Myozyme
20 mg/kg qow
Other Name: alglucosidase alfa

Primary Outcome Measures :
  1. safety and PK profile rhGAA [ Time Frame: 74 weeks ]
  2. FVC [ Time Frame: 74 weeks ]
  3. MMT [ Time Frame: 74 weeks ]
  4. Effect of treatment on muscle function [ Time Frame: 74 weeks ]

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • patient's legally authorized guardian(s) must provide signed, informed consent prior to performing any study-related procedures; patient's signature required if patient understands informed consent
  • patient must have a diagnosis of Pompe disease based on deficient endogenous GAA activity or GAA gene mutations
  • patient must have demonstrable muscle weakness
  • patient must be greater than or equal to five years of age and younger than eighteen years of age
  • patient must be able to provide 3 reproducible FVC tests in sitting position during screening
  • patient must perform muscle function testing
  • patient must ambulate 10 meters (assistive devices permitted)
  • patient and legal guardian must comply with the clinical protocol

Exclusion Criteria:

  • patient requires the use of invasive ventilatory support
  • patient requires the use of noninvasive ventilatory support while awake and in an upright position
  • patient has received enzyme replacement therapy with GAA from any source
  • patient has used an investigational product within 30 days prior to study enrollment, or is currently enrolled in another clinical or observational study
  • patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities
  • Female patients pregnant, lactating or unwilling to practice birth control methods during study
  • Male patients unwilling to use barrier contraceptives during study

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00250939

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Sophia Kinderziekenhuis, Erasmus MC
Rotterdam, Netherlands, 3015
Sponsors and Collaborators
Genzyme, a Sanofi Company
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Study Director: Medical Monitor Genzyme, a Sanofi Company

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Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00250939     History of Changes
Other Study ID Numbers: AGLU02804
First Posted: November 9, 2005    Key Record Dates
Last Update Posted: February 6, 2014
Last Verified: February 2014
Keywords provided by Sanofi:
Glycogen Storage Disease Type II
Pompe Disease
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
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
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Nutrition Disorders
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors