An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 发起方
- 入组人数
- 20
- 试验地点
- 11
- 主要终点
- Evaluate the safety of Myozyme
研究概览
简要总结
Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 6 Months 至 36 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The patient or the patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed
- •The patient must have a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age
- •The patient is greater than 6 months old and less than or equal to 36 months old at the time of the first dose of rhGAA
- •The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol
排除标准
- •Signs and symptoms of cardiac failure and an ejection fraction less than 40%
- •Major congenital abnormality
- •Clinically significant organic disease (with the exception of symptoms relating to GSD-II), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival
- •Use of any investigational product within 30 days prior to study enrollment
- •Received enzyme replacement therapy with GAA from any source
结局指标
主要结局
Evaluate the safety of Myozyme
时间窗: 52 weeks
PK profile of MZ
时间窗: 52 weeks
Determine proportion of patients alive over the course of treatment
时间窗: 52 weeks
PD profile of MZ
时间窗: 52 weeks
次要结局
未报告次要终点