rhGAA in Patients With Infantile-Onset Glycogen Storage Disease-II (Pompe Disease) - Full Text View

Purpose

Glycogen Storage Disease Type II ("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 and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.

Condition	Intervention	Phase
Glycogen Storage Disease Type II Pompe Disease Acid Maltase Deficiency Disease Glycogenosis 2	Biological: Myozyme	Phase I Phase II

Genetics Home Reference related topics:

Pompe disease

Drug Information available for:

Alglucosidase Alfa

U.S. FDA Resources

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

Official Title:	An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II

Further study details as provided by Genzyme:

Primary Outcome Measures:

Evaluate the safety of Myozyme [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]
Determine proportion of patients alive over the course of treatment [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]
PK profile of MZ [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]
PD profile of MZ [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]

Enrollment:	20
Study Start Date:	February 2003
Study Completion Date:	November 2006
Primary Completion Date:	July 2006 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
1: Experimental	Biological: Myozyme 20 mg/kg to 40 mg/kg qow

Eligibility

Ages Eligible for Study:	6 Months to 36 Months
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Inclusion Criteria:

The patient or the patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed
The patient must have a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age
The patient is greater than 6 months old and less than or equal to 36 months old at the time of the first dose of rhGAA
The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol

Exclusion Criteria:

Signs and symptoms of cardiac failure and an ejection fraction less than 40%
Major congenital abnormality
Clinically 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, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival
Use of any investigational product within 30 days prior to study enrollment
Received enzyme replacement therapy with GAA from any source

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00053573

Locations


United States, Florida
	University of Florida College of Medicine
	Gainesville, Florida, United States, 32610

United States, North Carolina
	Duke University Medical Center
	Durham, North Carolina, United States, 27710

United States, Ohio
	Children's Hospital Medical Center
	Cincinnati, Ohio, United States, 45229

France
	Pediatrique Hopital de Brousse
	Lyon, France

Israel
	Rambam Medical Center
	Haifa, Israel, 31096

United Kingdom
	Royal Manchester Children's Hospital
	Manchester, United Kingdom, M27 4 HA

Sponsors and Collaborators

Genzyme

Investigators


Study Director:	Medical Monitor	Genzyme

More Information

US FDA Approved Full Prescribing Information for Myozyme® This link exits the ClinicalTrials.gov site

Responsible Party:	Genzyme Corporation ( Medical Monitor )
Study ID Numbers:	AGLU01702
First Received:	January 31, 2003
Last Updated:	October 9, 2008
ClinicalTrials.gov Identifier:	NCT00053573
Health Authority:	United States: Food and Drug Administration

Keywords provided by Genzyme:

Glycogen Storage Disease Type II

GSD-II

Pompe Disease

Study placed in the following topic categories:

Metabolic Diseases

Glycogen Storage Disease

Lysosomal Storage Diseases

Central Nervous System Diseases

Glycogen Storage Disease Type II

Brain Diseases

Glycogen storage disease type 2

Metabolism, Inborn Errors

Malnutrition

Genetic Diseases, Inborn

Nutrition Disorders

Brain Diseases, Metabolic, Inborn

Metabolic disorder

Deficiency Diseases

Brain Diseases, Metabolic

Additional relevant MeSH terms:

Lysosomal Storage Diseases, Nervous System

Nervous System Diseases

Carbohydrate Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on November 20, 2008

Sponsored by:	Genzyme
Information provided by:	Genzyme
ClinicalTrials.gov Identifier:	NCT00053573