Molecular Diagnosis of Primary Ciliary Dyskinesia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 125
- 试验地点
- 1
- 主要终点
- After DNA extraction,standard procedures for the identification of human gene mutations will be used for each gene tested in the study
研究概览
简要总结
Primary ciliary dyskinesia is an inherited respiratory disease caused by various functional and ultrastructural abnormalities of respiratory cilia. The genetic heterogeneity underlying PCD is extremely important and only few genes are clearly implicated in PCD. Their mutations account for about 20% of patients. For all the other PCD patients, the genes responsible for their ciliary defect remain to be identify.
详细描述
1/ Evaluating the frequency of mutations of the two main genes implicated in PCD, in a large cohort of patients with PCD confirmed by ciliary investigations.2/ Identifying and testing new candidate genes responsible not only for typical PCD and related disorders of the axoneme, but also for so far-unexplored "syndromic forms of PCD", taking advantage of data obtained through comparative genomic approaches between different species, ciliated or not.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Month 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies.
排除标准
- •Patients with exclusion of primary ciliary dyskinesia after ciliary investigations.
结局指标
主要结局
After DNA extraction,standard procedures for the identification of human gene mutations will be used for each gene tested in the study
时间窗: At the inclusion visit
次要结局
- Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia.(At the inclusion visit)