Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 15
- 试验地点
- 1
- 主要终点
- Number of diagnoses performed with high throughput ES
研究概览
简要总结
Congenital epileptic encephalopathies (EE) are predominantly genetic in origin. Their diagnosis is hampered by the large number of genes involved and their low recurrence. Genetic study in routine diagnosis is limited by the existing techniques and the development costs. The routine diagnostic implementation of high throughput sequencing pushes these limits. High throughput exome sequencing (ES) showed superior diagnostic performance in all diagnostic settings studied.
This pilot study is dedicated to evaluating the diagnostic performance of high throughput ES in EE, with an implementation and analysis strategy allowing for a direct transfer to routine diagnostics. This novel approach should improve the diagnostic rate while reducing the diagnostic cost per patient.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of epileptic encephalopathy, defined by the clinical association of epilepsy and a significant delay in acquisition
- •Family case with recurrence in siblings, suggesting autosomal recessive transmission or X-linked inheritance (with or without parental consanguinity), or sporadic case resulting from inbreeding.
- •Lack of etiologic orientation based on clinical examination.
- •Normal routine diagnostic genetic examinations including a metabolic check-up, array CGH analysis.
- •Brain imaging which does not suggest an acquired cause.
排除标准
- •Unavailable parental samples
- •Diagnostic orientation from one of the tests mentioned above
- •Brain imaging suggesting anoxia sequelae
结局指标
主要结局
Number of diagnoses performed with high throughput ES
时间窗: Through study completion, an average of 1 year.
次要结局
未报告次要终点