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

NCT00074932 | Completed

• 1 other identifier: AGLU02603
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 8

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.

Conditions

Glycogen Storage Disease Type II; Glycogenosis 2

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Provide ERT with Myozyme in severly affected patients with Late-onset Pompe disease

  52 weeks

Study Arms (1)

1

OTHER

Biological: Myozyme

Interventions

Myozyme BIOLOGICAL

20 mg/kg

Also known as: Alglucosidase alfa

1

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (8)

Colorado Health Science Center

Aurora, Colorado, United States

Location

Galichia Heart Hospital

Wichita, Kansas, United States

Location

Genzyme Medical Information

Cambridge, Massachusetts, 02142, United States

Location

Freeman Health Systems

Joplin, Missouri, United States

Location

The Women's and Children's Hospital of Buffalo

Buffalo, New York, United States

Location

North Shore University Hospital

Manhasset, New York, United States

Location

Macoumb/Oakland Adult Medicine

Rochester Hills, New York, United States

Location

Riverside Regional Medical Center

Newport News, Virginia, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Expanded Access: Yes

Study Record Dates

• First Submitted: December 23, 2003
• First Posted: December 25, 2003
• Study Start: November 1, 2004
• Primary Completion: August 1, 2006
• Study Completion: December 1, 2006
• Last Updated: February 6, 2014

Record last verified: 2014-02

Locations

US (8)