NCT02123186已完成不适用
Newborn Screening for Spinal Muscular Atrophy
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 120,267
- 试验地点
- 1
- 主要终点
- numbers of newborn with spinal muscular atrophy
研究概览
简要总结
To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy
详细描述
Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Days 至 3 Months（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
- •Parents or Legal Guardian sign in the informed consent form.
排除标准
- •Parents or Legal Guardian do not agree to sign in the informed consent form.
结局指标
主要结局
numbers of newborn with spinal muscular atrophy
时间窗: 18 months
次要结局
未报告次要终点
研究者
研究点 (1)
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