The HIEnome Study: Genome Sequencing for Perinatal HIE
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- Diagnostic yield
研究概览
简要总结
Perinatal hypoxic-ischemic encephalopathy is a rare severe condition in which neonates present with encephalopathy and a clinical history suggestive of prenatal or perinatal hypoxic-ischemic injury. Emerging evidence suggests that genetic conditions are frequently identified in cases of perinatal HIE; however, it is unclear which neonates with this diagnosis warrant genetic testing. This study will offer clinical genome sequencing to neonates with HIE who are undergoing total body cooling (therapeutic hypothermia) and their parents.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 0 Days 至 1 Year（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Delivery ≥35w0d gestation
- •Diagnosed with moderate or severe HIE, or HIE with seizures
- •Undergoing total body cooling / therapeutic hypothermia
- •Able to provide blood or buccal samples during birth hospitalization
- •Admitted to Texas Children's Hospital Main, West, or Woodlands NICU
排除标准
- •Parents/family not willing to allow participation
- •Inability to collect sufficient neonatal blood samples (in some circumstances, a buccal swab may be used as backup)
研究组 & 干预措施
Perinatal HIE
Newborns diagnosed with moderate or severe perinatal hypoxic-ischemic encephalopathy (HIE) who are undergoing therapeutic hypothermia will receive genome sequencing to identify co-morbid genetic conditions. Participants' genetic data will be analyzed for copy number variations (CNVs), single nucleotide variants (SNVs), and triplet repeat disorders per ACMG reporting standards.
干预措施: Genome sequencing (Genetic)
结局指标
主要结局
Diagnostic yield
时间窗: 18 months
The primary outcome will be the number of cases with a pathogenic or likely-pathogenic variant associated with encephalopathy. This will further be stratified by the presence or absence of a perinatal hypoxic insult or sentinel event.
次要结局
- Genome versus exome sequencing(18 months)
- Indeterminate results(18 months)
研究者
Seema Lalani
Professor
Baylor College of Medicine