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

Genzyme Europe BV0 个研究点目标入组 5 人开始时间: 2006年2月9日最近更新: 2017年10月2日

适应症

试验速览

暂无简介。

•(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

•(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.

发起方