Long Term Follow-up for Patients With Pompe Disease Undergoing Compassionate Use and Transitioning to Medication Listed Under the National Health Insurance.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Urinary Glc4/Hex4
研究概览
简要总结
Evaluate short- and long-term biomarker, motor function, respiratory function and safety with avalglucosidase alfa in IOPD and LOPD patients who switched from other ERT.
详细描述
Clinical characteristics of Pompe patients receiving avalglucosidase alfa will be collected and analyzed. Adverse events occurring during avalglucosidase alfa treatment will be collected and described. Urinary Glc4/Hex4 is the primary endpoints for effectiveness analysis of avalglucosidase alfa. Other assessment items include creatine kinase, motor function (Quick Motor Function Test) and respiratory function (forced vital capacity). The evolution of those assessment items after avalglucosidase alfa treatment will be descriptively analyzed and compared to baseline assessments (i.e., the time before initiating avalglucosidase alfa and/or one-year preceding avalglucosidase alfa initiation) at the individual patient level depending on prior duration of ERT at time of avalglucosidase alfa switch.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed GAA enzyme deficiency (any tissue source) and/or confirmed 2 pathogenic GAA gene variants Pompe patient
排除标准
- •Having severe allergic reaction to avalglucosidase alfa.
- •Patient/parent/legal guardian is not agreeing to provide signed informed consent, and the patient, if <18 years of age
结局指标
主要结局
Urinary Glc4/Hex4
时间窗: 3years
the primary endpoints for effectiveness analysis of avalglucosidase alfa. Urinary Glc4/Hex4 is usually elevated in Pompe patients and are sensitive though nonspecific biomarkers for diagnosis and monitoring of IOPD or LOPD
次要结局
- Creatine kinase(3years)
- motor function (Quick Motor Function Test)(3 years)
- respiratory function (forced vital capacity).(3 years)
研究者
National Taiwan University Clinical Trial Center
Attending Physician
National Taiwan University Hospital