NCT02903654已完成不适用
Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 925
- 主要终点
- prevalence of p.Gly648Ser and p.Arg854X
研究概览
简要总结
Given the high incidence of Pompe's Disease in French Guiana (100 times higher than in mainland France) the aim is to determine the prevalence of heterozygotes among women having just delivered in French Guiana who accepted that their newborn child enters the depipomp1 study. In these women the specific mutations p.Gly648Ser and p.Arg854X will be sought using PCR in order to calculate the prevalence of these mutations and estimate the risk factors associated with them in order to improve genetic counselling.
研究设计
- 研究类型
- Observational
- 时间视角
- Cross Sectional
入排标准
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •women having delivered in French Guiana whose child was enroled in the depipomp1 study
排除标准
- •refusal to participate
结局指标
主要结局
prevalence of p.Gly648Ser and p.Arg854X
时间窗: Within 3 days after birth
number of positive mutations divided by total number of women tested
次要结局
未报告次要终点
研究者
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