NCT02904395已完成不适用
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 3,413
- 主要终点
- Signature mutation for pompe's disease
研究概览
简要总结
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the muscular and cardiac symptoms appear.
研究设计
- 研究类型
- Observational
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 2 Days（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- •parent refusal
结局指标
主要结局
Signature mutation for pompe's disease
时间窗: At birth
The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.
acid maltase activity
时间窗: At birth
The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.
次要结局
未报告次要终点
研究者
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