AGLU02804: Single-Center, Open-Label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease

This study has been completed.

Sponsored By:	Genzyme
Information Provided By:	Genzyme
ClinicalTrials.gov Identifier:	NCT00250939

Purpose

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.

Condition	Intervention	Phase
Pompe Disease (Late-Onset) Glycogen Storage Disease Type II (GSD-II) Acid Maltase Deficiency Disease Glycogenosis 2	Drug: Myozyme, rhGAA (alglucosidase alfa)	Phase II

Study Type: Interventional

Study Design: Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study

Further Study Details:

Primary Outcomes: safety and PK profile rhGAA; FVC; MMT; 6 mile walk test vs. 3 mile walk test
Expected Total Enrollment: 5

Study start: February 2005; Study completion: June 2006

Last follow-up: April 2006; Data entry closure: June 2006

Eligibility

Ages Eligible for Study: 5 Years - 18 Years, Genders Eligible for Study: Both

Criteria

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

Location and Contact Information

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

More Information

Myozyme® FDA-approved labeling information

Study ID Numbers: AGLU02804
ClinicalTrials.gov Identifier: NCT00250939
Health Authority: European Union: European Medicines Agency