Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy (NSR-GENE)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 300
- 试验地点
- 8
- 主要终点
- Number of participants with post-neonatal epilepsy
研究概览
简要总结
The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of post-neonatal epilepsy among children with acute provoked neonatal seizures. The researchers aim to develop prediction rules to stratify neonates into low, medium, and high risk for post-neonatal epilepsy based on clinical, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic risk factors.
详细描述
Neonatal seizures due to brain injury (acute provoked seizures) are associated with high risk of post-neonatal epilepsy. Although clinical risk factors can help predict which children are at highest risk for epilepsy, little is known about how genetic factors modify the risk for epilepsy after acute provoked neonatal seizures. The Neonatal Seizure Registry - GENetics of Epilepsy (NSR-GENE) study will test the central hypothesis that children who develop post-neonatal epilepsy are more likely to have pathogenic variants in epilepsy genes, and enrichment in single nucleotide polymorphisms within key inflammatory, neurotransmitter transport and homeostasis, and neurotrophic gene pathways as compared with children who do not develop unprovoked seizures before age five years, and that these can be added to traditional clinical risk factors to predict epilepsy after neonatal seizures.
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
- •Children < 44 weeks postmenstrual age at seizure onset
- •Seizures due to an acute provoked cause (including, but not limited to HIE, ischemic stroke, or intracranial hemorrhage)
- •Parent(s) who are English or Spanish literate (with interpreter)
- •Birthdate between 3/1/2023 and 1/1/2011
- •One biological parent willing to participate
- •Enrolled in NSR-II
- •Fulfilling all NSR-II eligibility criteria and evaluated at an NSR center for neonatal seizures or enrolled in NSR-RISE
排除标准
- •Risk for adverse outcome independent of seizures and underlying brain injury (including but not limited to inborn errors of metabolism, fetal infection, brain malformation)
- •Transient cause for seizures (e.g., hypoglycemia without brain injury, hyponatremia, hypocalcemia)
- •Neonatal-onset epilepsy syndromes
结局指标
主要结局
Number of participants with post-neonatal epilepsy
时间窗: 5 years of age
The presence or absence of a post-neonatal epilepsy diagnosis at age 5 in children with a prior history of acute symptomatic neonatal seizures will be determined by telephone interview with the parent and corroborated by medical record review
次要结局
未报告次要终点