Genetics of Neonatal Encephalopathy and Related Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Diagnostic yield
研究概览
简要总结
Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to neonatal encephalopathy (NE) and related disorders. These findings may help explain the broad spectrum of clinical features and outcomes seen in individuals with a history of NE.
详细描述
Neonatal encephalopathy (NE) is a disorder of term newborns involving dysfunction of the central nervous system and can impact one's health throughout the lifespan. While NE can be caused by a number of exposures or external factors, in some cases there is no cause identified or the severity of the condition cannot fully be explained by external factors. In these cases, there is increasing evidence to suggest underlying genetic factors may contribute to NE.
The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause or contribute to NE. By doing so the investigators hope to improve diagnosis and management of NE.
We have two specific aims:
Aim 1: To identify genetic causes of and contributors to NE and related disorders.
Aim 2: To correlate genetic findings with clinical features.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Proband Criteria:
- •Inclusion Criteria:
- •Diagnosed with neonatal encephalopathy during the neonatal period as documented in the electronic medical record
- •Less than 6 years old at the time of study enrollment
- •Patient at Boston Children's Hospital
排除标准
- •Genetic cause of NE already identified
- •Deceased prior to enrollment
- •Parent criteria:
- •Inclusion Criteria:
- •- Biological parent of eligible proband (see above)
研究组 & 干预措施
Neonatal Encephalopathy
Individuals with a history of NE who are less than 6 years old at the time of enrollment and available biological parents. Must be followed clinically at Boston Children's Hospital. Research genomic sequencing with CLIA confirmation of diagnostic findings. Those with an existing genetic diagnosis or who are deceased prior to enrollment are ineligible.
结局指标
主要结局
Diagnostic yield
时间窗: 10 years
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled participants with NE who receive a genetic diagnosis.
次要结局
未报告次要终点
研究者
Alissa D'Gama
Assistant Professor of Pediatrics
Boston Children's Hospital