Clinical trial NCT00250939: A Study of rhGAA in Patients With Late-Onset Pompe Disease
Official title: Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Pompe Disease (Late-onset)
Glycogen Storage Disease Type II (GSD-II)
Acid Maltase Deficiency Disease
Glycogenosis 2
Keywords: Glycogen Storage Disease Type II
GSD-II
Pompe Disease
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2005-11-09
Enrollment: 5
Sex: ALL
Minimum age (years): 5
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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


Eligibility 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

Primary outcomes:
measure: safety and PK profile rhGAA
timeFrame: 74 weeks
measure: FVC
timeFrame: 74 weeks
measure: MMT
timeFrame: 74 weeks
measure: Effect of treatment on muscle function
timeFrame: 74 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: Rotterdam
country: Netherlands
facility: Sophia Kinderziekenhuis, Erasmus MC
Study officials:
affiliation: Genzyme, a Sanofi Company
name: Medical Monitor
role: STUDY_DIRECTOR
References: