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A Study of rhGAA in Patients With Late-Onset Pompe Disease

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: November 8, 2005
Last updated: February 4, 2014
Last verified: February 2014
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 Intervention Phase
Pompe Disease (Late-onset)
Glycogen Storage Disease Type II (GSD-II)
Acid Maltase Deficiency Disease
Glycogenosis 2
Biological: Myozyme
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: 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

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • safety and PK profile rhGAA [ Time Frame: 74 weeks ]
  • FVC [ Time Frame: 74 weeks ]
  • MMT [ Time Frame: 74 weeks ]
  • Effect of treatment on muscle function [ Time Frame: 74 weeks ]

Enrollment: 5
Study Start Date: February 2005
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 qow
Other Name: alglucosidase alfa


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
  Contacts and Locations
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Please refer to this study by its identifier: NCT00250939

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

Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00250939     History of Changes
Other Study ID Numbers: AGLU02804
Study First Received: November 8, 2005
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
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
Metabolic Diseases
Nutrition Disorders processed this record on April 28, 2017