A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

Glycogen Storage Disease Type II Clinical Trial

Official title:

An Open-label, Multicenter, Multinational Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Recombinant Human Acid Alpha-glucosidase Treatment in Patients Less Than 6 Months Old With Infantile-onset Pompe Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00059280
• Other study ID #: AGLU01602
• Status: Completed
• Phase: Phase 2/Phase 3
• First received: April 22, 2003
• Last updated: February 4, 2014
• Start date: April 2003
• Est. completion date: September 2005

Study information

• Verified date: July 2006
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Interventional

Clinical Trial Summary

Pompe disease (also known as glycogen storage disease type II, "GSD-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. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are less than or equal to 6 months old will be studied.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 16
• Est. completion date: September 2005
• Est. primary completion date: June 2005
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 26 Weeks

Eligibility

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 clinical symptoms (documented in his or her medical record) of infantile-onset Pompe disease. In addition, the patient must have: a. an endogenous GAA activity less than 1% of the mean of the normal range as assessed in cultured skin fibroblasts; AND b. cardiomyopathy (LVMI greater than 65 g/m2) by echocardiography;

• The patient must be no older than 26 weeks and 0 days, when he/she receives the first dose of rhGAA;

• The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol.

Exclusion criteria:

• Symptoms of respiratory insufficiency, including: a. Oxygen saturation less than 90% in room air as measured by pulse oximetry; OR b. venous PCO2 greater than 55 mmHg on room air OR arterial PCO2 greater than 40 mmHg on room air; c. any ventilator use at the time of enrollment;

• Major congenital abnormality;

• Clinically significant organic disease (with the exception of symptoms relating to 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 trial or potentially decrease survival;

• Use of any investigational product within 30 days prior to study enrollment;

• Received enzyme replacement therapy with GAA from any source.

Study Design

Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Factorial Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Glycogen Storage Disease
• Glycogen Storage Disease Type II

Intervention

Biological:
• Myozyme
20 mg/kg qow or 40mg/kg qow

Locations

Country	Name	City	State
France	Pediatrique Hopital deBrousse	Lyon
Israel	Rambam Medical Center	Haifa
Taiwan	National Taiwan University Hospital	Taipei
United Kingdom	Royal Manchester Children's Hospital	Manchester
United States	Children's Hospital Medical Center	Cincinnati	Ohio
United States	Duke University Medical Center	Durham	North Carolina
United States	University of Florida College of Medicine	Gainesville	Florida
United States	University of Utah Medical Center	Salt Lake City	Utah

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Countries where clinical trial is conducted

United States,  France,  Israel,  Taiwan,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluate the safety profile of MZ		52 weeks	No
Primary	To estimate the proportion of patients treated w/ MZ who were alive and free of ventilator support at 12 months of age; compared to historical cohort		52 weeks	No
Primary	Determine PK/PD profile of MZ		52 weeks	No
Primary	Determine effect of different doses of MZ on safety and efficacy		52 weeks	No