NCT02862808已完成不适用
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 18
- 试验地点
- 1
- 主要终点
- Number of patients with a molecular diagnostic and diagnostic yield
研究概览
简要总结
Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of syndromic or isolated severe intellectual disability (IQ <50) without a molecular diagnosis
- •Recurrence in siblings (multiplex families) suggesting autosomal recessive inheritance (with or without parental consanguinity) or sporadic cases from a consanguineous union
- •Conventional genetic tests performed (including array-CGH) and MRI/CT-scan available
- •DNA samples from parents and from both unaffected or affected siblings available, for parental segregation and confirmation of candidate variations identified.
- •Availability of a signed informed consent
- •To be affiliated or beneficiary of French social security/healthcare system
排除标准
- •Parents in the exclusion period of another study or as provided by the national register of volunteers
- •High-probability diagnostic hypothesis for which a molecular test is available at lower cost than exome sequencing
结局指标
主要结局
Number of patients with a molecular diagnostic and diagnostic yield
时间窗: up to 12 months
次要结局
- Cost/diagnostic ratio in comparison with conventional techniques(up to 12 months)
- Reporting time in comparison with conventional techniques(up to 12 months)
研究者
研究点 (1)
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