NCT01758354已完成不适用
Newborn Screening Assay of Pompe's Disease
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 236,536
- 试验地点
- 1
- 主要终点
- detect patients with infantile onset Pompe disease
研究概览
简要总结
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
详细描述
DBS from newborn will be tested for acid alpha-glucosidase (GAA) activity. Babies with low GAA activity will be confirmed for Pompe disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
- •parents signed inform consent for this study
排除标准
- 未提供
研究组 & 干预措施
Pompe disease newborn screening
Experimental
newborns will be tested if they were affected by Pompe disease
干预措施: Pompe disease newborn screening (Other)
结局指标
主要结局
detect patients with infantile onset Pompe disease
时间窗: 3 months
次要结局
未报告次要终点
研究者
研究点 (1)
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