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临床试验/NCT02558478
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

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

发起方
University Hospital, Strasbourg, France
申办方类型
Other
责任方
Sponsor

研究点 (1)

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