NCT02014961招募中不适用
Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 223
- 试验地点
- 2
- 主要终点
- Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
研究概览
简要总结
Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation.
详细描述
In a large Dutch SCN5A founder population with malignant ventricular arrhythmias, the investigators aim to identify genetic modifiers by means of whole-exome sequencing and to establish a comprehensive genotype-phenotype correlation, focussing on clinical and cellular electrophysiological characteristics and neurocardiac modulation.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- Single (Investigator)
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- •Age ≥ 18 years.
- •Biological parent of SCN5A-delPhe1617 positive subject participating to the Worm Study, and not belonging to study group 1 or
- •Written informed consent.
结局指标
主要结局
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
时间窗: two years
次要结局
未报告次要终点
研究者
研究点 (2)
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