Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease

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.

Study Overview

• Status: Approved for marketing
• Conditions: Glycogen Storage Disease Type II; Glycogenosis 2
• Intervention / Treatment: Biological: alglucosidase alfa

• Study Type: Expanded Access

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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.

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company

Publications and helpful links

General Publications

• Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.

Study record dates

Study Major Dates

• Study Start: December 1, 2003
• Primary Completion (Actual): February 1, 2007
• Study Completion (Actual): February 1, 2007

Study Registration Dates

• First Submitted: December 23, 2003
• First Submitted That Met QC Criteria: December 24, 2003
• First Posted (Estimate): December 25, 2003

Study Record Updates

• Last Update Posted (Estimate): February 5, 2014
• Last Update Submitted That Met QC Criteria: February 4, 2014
• Last Verified: February 1, 2014

More Information

Terms related to this study

• Keywords: Glycogen Storage Disease Type II; GSD-II; Pompe Disease; Acid Maltase Deficiency Disease
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease
• Other Study ID Numbers: AGLU02203