Full title of the trial : A Single Centre, Open-Label, Bridging Study of 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) - mini LOTS

Phase 1

Conditions: Glycogen Storage Disease type II (Pompe´s disease)

Registration Number: EUCTR2005-002829-31-BE

Lead Sponsor: Genzyme Europe BV

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 5

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 <18 years of age; (5) The patient must be able to provide 3 reproducible FVC tests (values within 5% of each other) in the sitting position during the Screening/Baseline visit; (6) The patient must be able to perform muscle function testing; (7) The patient must be able to ambulate 10 meters (use of assistive devices such as a walker, cane, crutches, is permitted); (8) The patient (and legal guardian) must have the ability to comply with the clinical protocol.
Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

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.

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Secondary Outcome Measures