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

This study has been completed.
Sponsor:
Information provided by:
Sanofi
ClinicalTrials.gov Identifier:
NCT00250939
First received: November 8, 2005
Last updated: February 4, 2014
Last verified: February 2014
  Purpose

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
Endpoint Classification: Safety/Efficacy Study
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 ] [ Designated as safety issue: No ]
  • FVC [ Time Frame: 74 weeks ] [ Designated as safety issue: No ]
  • MMT [ Time Frame: 74 weeks ] [ Designated as safety issue: No ]
  • Effect of treatment on muscle function [ Time Frame: 74 weeks ] [ Designated as safety issue: No ]

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

  Eligibility

Ages Eligible for Study:   5 Years to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00250939

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

No publications provided

Responsible Party: Medical Monitor, Genzyme Corporation
ClinicalTrials.gov Identifier: NCT00250939     History of Changes
Other Study ID Numbers: AGLU02804
Study First Received: November 8, 2005
Last Updated: February 4, 2014
Health Authority: European Union: European Medicines Agency

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

Additional relevant MeSH terms:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Deficiency Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Carbohydrate Metabolism, Inborn Errors
Central Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Malnutrition
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Nutrition Disorders

ClinicalTrials.gov processed this record on November 25, 2014