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A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: January 17, 2003
Last updated: February 4, 2014
Last verified: February 2014
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, pharmacokinetics, pharmacodynamics and efficacy of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for a pair of siblings with GSD-II. To be eligible for this study, a patient must have a confirmed diagnosis of GSD-II and have a sister or brother who also has a confirmed diagnosis of GSD-II.

Condition Intervention Phase
Glycogen Storage Disease Type II
Pompe Disease
Acid Maltase Deficiency Disease
Glycogenosis 2
Drug: Alglucosidase alfa
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II).

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • Evaluate safety, pharmacokinetics and pharmacodynamics [ Time Frame: 52 weeks ]
  • Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations [ Time Frame: 52 weeks ]
  • Evaluate differences in skeletal muscle expression prior to and after ERT [ Time Frame: 52 weeks ]

Enrollment: 2
Study Start Date: January 2003
Study Completion Date: October 2003
Primary Completion Date: April 2003 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 1 Drug: Alglucosidase alfa
20 mg/kg (qow); intravenous


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Written informed consent must be obtained from the parent or guardian prior to performing any study related procedures;
  • Patient must have a clinical diagnosis of GSD-II confirmed by endogenous GAA activity below normal in at least one tissue;
  • Patient must have a sibling with a clinical diagnosis of GSD-II confirmed by an endogenous GAA activity below normal in at least one tissue, who is eligible for participation in this study;
  • Patient must have a sibling with identical GAA mutations who is eligible for participation in this study;
  • Patient must have a sibling with evidence of different progression of GSD-II who is eligible for participation in this study;
  • The patient or his/her guardian(s) must have the ability to comply with the clinical protocol.

Exclusion Criteria:

  • Patient has 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, would preclude participation in the trial;
  • Patient is participating in another investigational study.
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Please refer to this study by its identifier: NCT00051935

United States, New Jersey
Saint Peter's University Hospital
New Brunswick, New Jersey, United States, 08903-0591
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00051935     History of Changes
Other Study ID Numbers: AGLU01502
Study First Received: January 17, 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
Deficiency Diseases
Glycogen Storage Disease
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 May 24, 2017