Glycogen Storage Disease type II (Pompe´s disease)
Conditions
Interventions
Product Name: Myozyme
Product Code: rhGAA, acid alpha glucosidase
Pharmaceutical Form: Powder for solution for infusion
INN or Proposed INN: Alglucosida
Sponsors
Genzyme Europe BV
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: (1) The patient’s legally authorised guardian(s) must provide written informed consent prior to performing any study-related procedures. If the patient can understand the written informed consent form, signature will be required from both the patient and the legally authorised guardian(s); (2) The patient must have a confirmation of diagnosis of Pompe disease by documentation of either GAA gene mutation analysis or deficient endogenous GAA activity as determined by the assaying laboratory; (3) The patient must have demonstrable muscle weakness on MMT; (4) The patient must be =5 and =65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: (1) The patient requires the use of invasive ventilatory support (Invasive ventilation is defined as any form of ventilatory support applied with the use of an endotracheal tube; a decannulated sealed stoma is acceptable.); (2) The patient requires the use of non-invasive ventilatory support whilst awake and in an upright position. (Non-invasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube.); (3) The patient has received enzyme replacement therapy (ERT) with GAA from any source; (4) The patient has received an investigational drug or device within 30 days prior to study enrolment, or is currently participating in another clinical or observational study; (5) The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities; (6) For female patients of child bearing potential only, the patient is pregnant or lactating, or is unwilling to practice birth control methods during the course of the study, such as abstinence, barrier methods, hormonal methods (oral contraceptives or injectable), or use of intrauterine devices; (7) For male patients only, the patient is unwilling to use barrier contraceptives during the course of the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Study the Safety, Pharmacokinetics and Efficacy of Recombinant Human Acid Alpha-Glucosidase (rhGAA) Treatment in Patients with Late-Onset Pompe Disease (Glycogen Storage Disease Type II);Secondary Objective: Efficacy as measured by means of multiple tests per protocol (e.g. FVC, MMT, HHD, 6MWT).;Primary end point(s): See objectives | — |
Countries
Belgium, United Kingdom
Outcome results
None listed