NCT03175692Unknown不适用
Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
适应症
试验速览
- 阶段
- 不适用
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Sensitivity of whole exome sequencing in detecting causative mutations
研究概览
简要总结
Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Day 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Pediatric patients admitted to intensive care unit
- •Infants with abnormal newborn screening result that is medical emergency
排除标准
- •Participants or parents who cannot comply with study
结局指标
主要结局
Sensitivity of whole exome sequencing in detecting causative mutations
时间窗: 10 weeks
次要结局
- Percentage of mutation identified within 7 days after receipt of the sample(10 weeks)
- Parents/family's attitude about exome sequencing(6 months)
- Time frame of mutation identified after receipt of the sample(10 weeks)
- Changes in healthcare decision after disclosure of the result(6 months)
研究者
研究点 (1)
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