NCT02558478Unknown不适用
Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
University Hospital, Strasbourg, France1 个研究点 分布在 1 个国家目标入组 39 人开始时间: 2015年9月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 39
- 试验地点
- 1
- 主要终点
- Whole exome sequencing data
研究概览
简要总结
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. The aim of this project is based on groups of patients with original clinical phenotypes including neurosensory impairment without genetic cause identified to date. The investigators will study these families using whole exome sequencing to potentially identify new genes and new underlying biological pathways involved in neurosensory diseases.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
入排标准
- 年龄范围
- 28 Days 至 65 Years(Child, Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Original phenotype with neurosensory diseases
- •Written, informed consent obtained
排除标准
- •Refusal to participate at the study
- •Prior inclusion in a similar study (NGS)
结局指标
主要结局
Whole exome sequencing data
时间窗: 21 months
次要结局
未报告次要终点
研究者
研究点 (1)
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