Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II).
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 发起方
- 入组人数
- 2
- 试验地点
- 1
- 主要终点
- Evaluate safety, pharmacokinetics and pharmacodynamics
研究概览
简要总结
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, pharmacokinetics, pharmacodynamics and efficacy of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for a pair of siblings with GSD-II. To be eligible for this study, a patient must have a confirmed diagnosis of GSD-II and have a sister or brother who also has a confirmed diagnosis of GSD-II.
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
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Written informed consent must be obtained from the parent or guardian prior to performing any study related procedures;
- •Patient must have a clinical diagnosis of GSD-II confirmed by endogenous GAA activity below normal in at least one tissue;
- •Patient must have a sibling with a clinical diagnosis of GSD-II confirmed by an endogenous GAA activity below normal in at least one tissue, who is eligible for participation in this study;
- •Patient must have a sibling with identical GAA mutations who is eligible for participation in this study;
- •Patient must have a sibling with evidence of different progression of GSD-II who is eligible for participation in this study;
- •The patient or his/her guardian(s) must have the ability to comply with the clinical protocol.
排除标准
- •Patient has 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, would preclude participation in the trial;
- •Patient is participating in another investigational study.
研究组 & 干预措施
1
干预措施: Alglucosidase alfa (Drug)
结局指标
主要结局
Evaluate safety, pharmacokinetics and pharmacodynamics
时间窗: 52 weeks
Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations
时间窗: 52 weeks
Evaluate differences in skeletal muscle expression prior to and after ERT
时间窗: 52 weeks
次要结局
未报告次要终点