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

This study has been completed.
Sponsor:
Information provided by:
Sanofi
ClinicalTrials.gov Identifier:
NCT00051935
First received: January 17, 2003
Last updated: February 4, 2014
Last verified: February 2014
  Purpose

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
Endpoint Classification: Safety/Efficacy Study
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 ] [ Designated as safety issue: No ]
  • Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]
  • Evaluate differences in skeletal muscle expression prior to and after ERT [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]

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

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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.
  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: NCT00051935

Locations
United States, New Jersey
Saint Peter's University Hospital
New Brunswick, New Jersey, United States, 08903-0591
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: NCT00051935     History of Changes
Other Study ID Numbers: AGLU01502
Study First Received: January 17, 2003
Last Updated: February 4, 2014
Health Authority: United States: Food and Drug Administration

Keywords provided by Sanofi:
Glycogen Storage Disease Type II
GSD-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
Malnutrition
Nutrition Disorders

ClinicalTrials.gov processed this record on September 22, 2014