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

Study Description

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Brief Summary:

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 or disease	Intervention/treatment
Glycogen Storage Disease Type II; Glycogenosis 2	Biological: alglucosidase alfa

Study Design

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Study Type :	Expanded Access
Official Title:	Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease
Study Start Date :	December 2003
Actual Primary Completion Date :	February 2007
Actual Study Completion Date :	February 2007

Interventions

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Intervention Details:

• Biological: alglucosidase alfa
  20 mg/kg qow
  Other Name: Myozyme

Eligibility Criteria

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Ages Eligible for Study:	Child, Adult, Older Adult
Sexes Eligible for Study:	All
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

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Sponsors and Collaborators

Genzyme, a Sanofi Company

Investigators

Study Director:	Medical Monitor	Genzyme, a Sanofi Company

More Information

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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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.

Responsible Party:	Genzyme, a Sanofi Company
ClinicalTrials.gov Identifier:	NCT00074919 History of Changes
Other Study ID Numbers:	AGLU02203
First Posted:	December 25, 2003
Last Update Posted:	February 5, 2014
Last Verified:	February 2014

Keywords provided by Sanofi ( Genzyme, a Sanofi Company ):

Glycogen Storage Disease Type II; GSD-II; Pompe Disease; Acid Maltase Deficiency Disease

Additional relevant MeSH terms:

Glycogen Storage Disease Type II; Glycogen Storage Disease; 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