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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00074932
Recruitment Status : Completed
First Posted : December 25, 2003
Last Update Posted : February 6, 2014
Information provided by:

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 alglucosidase alfa on an expanded access basis, to severely affected patients with late-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 studies currently enrolling patients with late-onset Pompe disease.

Condition or disease Intervention/treatment Phase
Glycogen Storage Disease Type II Glycogenosis 2 Biological: Myozyme Not Applicable

Expanded Access : Genzyme, a Sanofi Company has indicated that access to an investigational treatment associated with this study is available outside the clinical trial.  

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 9 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease
Study Start Date : November 2004
Actual Primary Completion Date : August 2006
Actual Study Completion Date : December 2006

Arm Intervention/treatment
1 Biological: Myozyme
20 mg/kg
Other Name: Alglucosidase alfa

Primary Outcome Measures :
  1. Provide ERT with Myozyme in severly affected patients with Late-onset Pompe disease [ Time Frame: 52 weeks ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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 has/had onset of symptoms compatible with Pompe disease after 12 months of age. Age at onset of symptoms must be documented in the patient's medical record(s).
  • The patient has documented GAA deficiency consistent with a diagnosis of Pompe disease, or the patient has a confirmed diagnosis of Pompe disease by documented genotype. Tissues used for determination of GAA deficiency may include blood, muscle or skin fibroblasts.
  • The patient must have the following conditions: a. The patient must be wheelchair bound (unable to ambulate with the use of assistive devices, such as walker, cane, or crutches) AND b. The patient requires the use of invasive ventilation (defined as the use of any form of ventilatory support applied through an endotracheal tube).
  • Female patients of childbearing potential must have a documented negative pregnancy test prior to dosing each month. In addition, all female patients of childbearing potential must use a medically accepted method of contraception throughout the program. Male patients who are sexually active must use a barrier method of contraception.

Exclusion Criteria:

  • Use of any investigational product within 30 days prior to program enrollment.
  • Major congenital abnormality;
  • Clinically significant organic disease (with the exception of symptoms relating to late-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.
  • The patient meets the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored treatment study currently enrolling patients with late-onset Pompe disease.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00074932

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United States, Colorado
Colorado Health Science Center
Aurora, Colorado, United States
United States, Kansas
Galichia Heart Hospital
Wichita, Kansas, United States
United States, Massachusetts
Genzyme Medical Information
Cambridge, Massachusetts, United States, 02142
United States, Missouri
Freeman Health Systems
Joplin, Missouri, United States
United States, New York
The Women's and Children's Hospital of Buffalo
Buffalo, New York, United States
North Shore University Hospital
Manhasset, New York, United States
Macoumb/Oakland Adult Medicine
Rochester Hills, New York, United States
United States, Virginia
Riverside Regional Medical Center
Newport News, Virginia, United States
Sponsors and Collaborators
Genzyme, a Sanofi Company
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Study Director: Medical Monitor Genzyme, a Sanofi Company

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Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00074932     History of Changes
Other Study ID Numbers: AGLU02603
First Posted: December 25, 2003    Key Record Dates
Last Update Posted: February 6, 2014
Last Verified: February 2014
Keywords provided by Sanofi:
Glycogen Storage Disease Type II
Pompe Disease
Acid Maltase Deficiency Disease
Additional relevant MeSH terms:
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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
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors