Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-Onset Pompe Disease - Full Text View

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 objective of this protocol is to provide enzyme replacement therapy with rhGAA on an expanded access basis, to severely affected patients with infantile-onset Pompe disease for whom there is no alternative treatment and who do not meet the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored study currently enrolling patients with infantile-onset Pompe disease.

Condition	Intervention
Glycogen Storage Disease Type II Glycogenosis 2	Biological: Myozyme

Genetics Home Reference related topics:

Pompe disease

ChemIDplus related topics:

Alglucosidase Alfa Glucan 1,4-alpha-Glucosidase

U.S. FDA Resources

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

Official Title:	Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-Onset Pompe Disease

Further study details as provided by Genzyme:

Primary Outcome Measures:

Provide ERT with MZ on an expanded access basis to severely affected patients with infantile-onset Pompe disease for whom there were no alternative treatments [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]

Enrollment:	33
Study Start Date:	December 2003
Study Completion Date:	February 2007
Primary Completion Date:	July 2006 (Final data collection date for primary outcome measure)

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

Eligibility

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 diagnosis of infantile-onset Pompe disease as defined by: a) The patient has/had onset of symptoms compatible with Pompe disease by 12 months of age adjusted for gestation, if necessary. Age at onset of symptoms must be documented in the patient's medical record(s). AND b) The patient has documented GAA deficiency, i.e., below the laboratory-defined cut-off value as determined by the laboratory performing the GAA enzyme activity assay. Tissues used for determination of GAA deficiency may include blood, muscle or skin fibroblasts.
Patients less than or equal to 6 months of age must have one of the following: a) Cardiomyopathy, defined as a LVMI determined by cross-sectional echocardiography; OR b) a requirement for invasive or non-invasive ventilatory support, where non-invasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube.
Patients greater than 6 months of age must have 2 of the following: a) Cardiomyopathy, defined as a LVMI determined by cross-sectional echocardiography; b) a requirement for invasive or non-invasive ventilatory support, where non-invasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube; OR c) Severe motor delay, defined as failure to perform gross motor skills achieved by 90% of normal aged peers on the Denver Developmental Assessment;
The patient or his/her legal guardian(s) must have the ability to comply with the clinical protocol.

Exclusion Criteria:

Major congenital abnormality;
Clinically significant organic disease (with the exception of symptoms relating to infantile-onset Pompe disease), 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 study or potentially decrease survival.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00074919

Locations


United States, Massachusetts
	Genzyme Medical Information
	Cambridge, Massachusetts, United States, 02142

Sponsors and Collaborators

Genzyme

Investigators


Study Director:	Judith Peterschmitt, M.D.	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:	AGLU02203
First Received:	December 23, 2003
Last Updated:	September 30, 2008
ClinicalTrials.gov Identifier:	NCT00074919
Health Authority:	United States: Food and Drug Administration

Keywords provided by Genzyme:

Glycogen Storage Disease Type II

GSD-II

Pompe Disease

Acid Maltase Deficiency 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

Genetic Diseases, Inborn

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 October 10, 2008

Sponsored by:	Genzyme
Information provided by:	Genzyme
ClinicalTrials.gov Identifier:	NCT00074919