Genetics of Epilepsy and Related Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 5,000
- 试验地点
- 2
- 主要终点
- Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.
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 epilepsy and related disorders. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.
详细描述
Many individuals with epilepsy experience seizures which respond well to treatment. Some types of epilepsy, however, are characterized by seizures which begin very early in childhood and are associated with severe intellectual and/or developmental disabilities. These conditions are often difficult to treat.
The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause epilepsy. By doing so the investigators hope to improve diagnosis and treatment for this epilepsy.
We have two specific aims:
- Identifying genetic findings in patients with epilepsy and related disorders.
- Correlating genetic findings with epilepsy phenotypes.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •inclusion: diagnosis of epilepsy, patient at Boston Children's Hospital
排除标准
- •exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain, not seen at Boston Children's Hospital
研究组 & 干预措施
BCH Children's Rare Disease Cohort (CRDC)
Individuals with epilepsy, onset at any age. Must be followed clinically at Boston Children's Hospital. Research trio-based exome and/or whole genome with CLIA confirmation of diagnostic findings. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation.
干预措施: Exome and/or whole genome sequencing (Genetic)
结局指标
主要结局
Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.
时间窗: 10 years
Use exome and/or whole genome sequencing to identify genetic variants. Detailed clinical information will be collected via medical records and patient questionnaire, as well as biological parents' exome sequencing to classify variants per ACMG guidelines.
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