Study on the Neonatal Screening of Spinal Muscular Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 250,000
- 试验地点
- 1
- 主要终点
- Number of neonates with confirmed the deletion of 2 copies of SMN1 gene
研究概览
简要总结
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.
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
- 0 Weeks 至 2 Weeks（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
- •Parents or legal guardian agree to perform SMA newborn screening.
排除标准
- •Parents or legal guardian do not agree to perform SMA newborn screening.
结局指标
主要结局
Number of neonates with confirmed the deletion of 2 copies of SMN1 gene
时间窗: 3 years
Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test
次要结局
- Number of neonates with confirmed SMA(3 years)