rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)

Pompe Disease Clinical Trial

Official title:

An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00053573
• Other study ID #: AGLU01702
• Status: Completed
• Phase: Phase 1/Phase 2
• First received: January 31, 2003
• Last updated: February 4, 2014
• Start date: February 2003
• Est. completion date: November 2006

Study information

• Verified date: February 2014
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Interventional

Clinical Trial Summary

Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 GSD-II, 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 GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: November 2006
• Est. primary completion date: July 2006
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 6 Months to 36 Months

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 a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age

• The patient is greater than 6 months old and less than or equal to 36 months old at the time of 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:

• Signs and symptoms of cardiac failure and an ejection fraction less than 40%

• Major congenital abnormality

• Clinically significant organic disease (with the exception of symptoms relating to GSD-II), 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: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Acid Maltase Deficiency Disease
• Deficiency Diseases
• Glycogen Storage Disease
• Glycogen Storage Disease Type II
• Glycogenosis 2
• Pompe Disease

Intervention

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

Locations

Country	Name	City	State
France	Pediatrique Hopital de Brousse	Lyon
Israel	Rambam Medical Center	Haifa
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

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Countries where clinical trial is conducted

United States,  France,  Israel,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluate the safety of Myozyme		52 weeks	No
Primary	Determine proportion of patients alive over the course of treatment		52 weeks	No
Primary	PK profile of MZ		52 weeks	No
Primary	PD profile of MZ		52 weeks	No