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

Sponsor:	Genzyme
Information provided by:	Genzyme
ClinicalTrials.gov Identifier:	NCT00051935

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 II

Study Type:	Interventional
Study Design:	Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study
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:

Genetics Home Reference related topics: Pompe disease succinic semialdehyde dehydrogenase deficiency

Drug Information available for: Alglucosidase Alfa

U.S. FDA Resources

Further study details as provided by Genzyme:

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
1: Experimental	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

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

Investigators

Study Director:

Medical Monitor

Genzyme

More Information

No publications provided

Responsible Party:	Genzyme Corporation ( Medical Monitor )
Study ID Numbers:	AGLU01502
Study First Received:	January 17, 2003
Last Updated:	July 6, 2009
ClinicalTrials.gov Identifier:	NCT00051935 History of Changes
Health Authority:	United States: Food and Drug Administration

Keywords provided by Genzyme:

Glycogen Storage Disease Type II
GSD-II
Pompe Disease

Additional relevant MeSH terms:

Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
Lysosomal Storage Diseases
Glycogen Storage Disease
Nervous System Diseases
Central Nervous System Diseases
Glycogen Storage Disease Type II
Brain Diseases

Metabolism, Inborn Errors
Malnutrition
Genetic Diseases, Inborn
Nutrition Disorders
Brain Diseases, Metabolic, Inborn
Carbohydrate Metabolism, Inborn Errors
Deficiency Diseases
Brain Diseases, Metabolic

ClinicalTrials.gov processed this record on November 30, 2009