A Study of rhGAA in Patients With Late-Onset Pompe Disease

Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease

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 overall objective is to evaluate the safety, pharmacokinetics (PK) and efficacy of Myozyme treatment.

Study Overview

• Status: Completed
• Conditions: Pompe Disease (Late-onset); Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency Disease; Glycogenosis 2
• Intervention / Treatment: Biological: Myozyme

• Study Type: Interventional
• Enrollment (Actual): 5
• Phase: Phase 2

Contacts and Locations

Study Locations

• Netherlands
  • Rotterdam, Netherlands, 3015
    • Sophia Kinderziekenhuis, Erasmus MC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• patient's legally authorized guardian(s) must provide signed, informed consent prior to performing any study-related procedures; patient's signature required if patient understands informed consent
• patient must have a diagnosis of Pompe disease based on deficient endogenous GAA activity or GAA gene mutations
• patient must have demonstrable muscle weakness
• patient must be greater than or equal to five years of age and younger than eighteen years of age
• patient must be able to provide 3 reproducible FVC tests in sitting position during screening
• patient must perform muscle function testing
• patient must ambulate 10 meters (assistive devices permitted)
• patient and legal guardian must comply with the clinical protocol

Exclusion Criteria:

• patient requires the use of invasive ventilatory support
• patient requires the use of noninvasive ventilatory support while awake and in an upright position
• patient has received enzyme replacement therapy with GAA from any source
• patient has used an investigational product within 30 days prior to study enrollment, or is currently enrolled in another clinical or observational study
• patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities
• Female patients pregnant, lactating or unwilling to practice birth control methods during study
• Male patients unwilling to use barrier contraceptives during study

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Non-Randomized
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: 1	Biological: Myozyme; 20 mg/kg qow; Other Names: alglucosidase alfa

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
safety and PK profile rhGAA	74 weeks
FVC	74 weeks
MMT	74 weeks
Effect of treatment on muscle function	74 weeks

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company

Study record dates

Study Major Dates

• Study Start: February 1, 2005
• Primary Completion (Actual): July 1, 2006
• Study Completion (Actual): November 1, 2006

Study Registration Dates

• First Submitted: November 8, 2005
• First Submitted That Met QC Criteria: November 8, 2005
• First Posted (Estimate): November 9, 2005

Study Record Updates

• Last Update Posted (Estimate): February 6, 2014
• Last Update Submitted That Met QC Criteria: February 4, 2014
• Last Verified: February 1, 2014

More Information

Terms related to this study

• Keywords: Glycogen Storage Disease Type II; GSD-II; Pompe Disease
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Nutrition Disorders; Genetic Diseases, Inborn; Malnutrition; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Disease; Deficiency Diseases; Glycogen Storage Disease Type II; Glycogen Storage Disease
• Other Study ID Numbers: AGLU02804

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No