Prospective, Open-label, Single-arm, Exploratory Study of the Effect and Safety of rhGAA in Patients With Advanced Late-onset Pompe Disease Who Are Receiving Respiratory Support
试验速览
- 阶段
- 3 期
- 状态
- 已完成
- 发起方
- 入组人数
- 5
- 试验地点
- 2
- 主要终点
- Treatment effect on muscle strength and functional status.
研究概览
简要总结
Pompe disease (also known as glycogen storage disease Type II) 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 Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective is to evaluate the safety and efficacy of rhGAA in patients with advanced Late-onset Pompe disease.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •male or female aged greater than or equal to 18 years
- •patient's legally authorized guardian(s) must provide signed, informed consent prior to initiation of study; patient's signature required if patient understands informed consent
- •patient must have a documented deficit in acid alpha-glucosidase (GAA) activity , corresponding to the diagnosis of Pompe disease confirmed by documented genotyping
- •patient presents with advanced documented symptoms of the disease defined as follows: patient is in a wheel chair and presents diaphragmatic dysfunction and requires invasive ventilation or non invasive ventilation (12 or more hours daily)
排除标准
- •patient has received enzyme replacement therapy with GAA from any source
- •patient has taken an experimental drug in the 30 days prior to study enrollment, or is currently included in another study involving clinical evaluations; If this is the case, inclusion of the patient in the present study will be subject to prior agreement by Genzyme
- •major congenital anomaly
- •clinically important organic disease (except for symptoms related to Pompe disease) or any other medical condition, serious intercurrent illness, or other extenuating circumstance that, in the physician's opinion should preclude the patient's participation in the study or may reduce survival
- •pregnancy and breastfeeding (women of childbearing age must use a medically accepted method of contraception throughout the entire duration of the trial. Male patients must use a medically accepted birth control method throughout the entire duration of the study)
结局指标
主要结局
Treatment effect on muscle strength and functional status.
时间窗: six months and one year
Treatment effect on cardiomyopathy noted at inclusion
时间窗: six months and one year
Treatment effect on fatigue.
时间窗: six months and one year
Treatment effect on quality of life.
时间窗: six months and one year
Treatment effect on muscular atrophy.
时间窗: six months and one year
Overall patient satisfaction with treatment (visual analog scale).
时间窗: six months and one year
Pharmacodynamics assessment.
时间窗: six months and one year
Treatment effect on pulmonary function and/or ventilation conditions.
时间窗: six months and one year
次要结局
未报告次要终点