NCT02112136已完成不适用
Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,450
- 试验地点
- 25
- 主要终点
- Number of patients/families with no mutations identified in PKD1 and PKD2 genes
研究概览
简要总结
The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).
Genome wide analysis will be performed in families without mutations identified.
详细描述
- Inclusion of ADPKD patients in 20 different centers of Nephrology in the Western part of France
- Characterization of the Phenotype
- Collect DNA sample
- Analysis of PKD1 and PKD2 genes first
- Analysis of HNFIb and UMOD for PKD1 and PKD2 negative patients
- Recruitment of affected and non-affected relatives of PKD1 and PKD2 negative ADPKD patients
- Identify new genes involved in ADPKD using exome sequencing in PKD1 and PKD2 negative pedigrees
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •for the proband :
- •Patients with a diagnosis of ADPKD
- •Written Informed Consent
- •Affiliated or benefiting from a national insurance
- •Inclusion Criteria of the relatives (affected or non affected) :
- •Relatives with a diagnosis of ADPKD (ADPKD relatives)
- •And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age
- •Written Informed consent
- •Affiliated or benefiting from a national insurance
排除标准
- •for the Probands:
- •Subjects unable to provide written informed consent
- •Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation
- •Exclusion criteria for the Relatives:
- •Subjects unable to provide written informed consent
- •Age under 30 for the "non-affected" relatives
研究组 & 干预措施
GeneQuest
Other
- No drug will be administrated in this study
- Blood collection
干预措施: Blood Collection (Other)
结局指标
主要结局
Number of patients/families with no mutations identified in PKD1 and PKD2 genes
时间窗: 3 years
次要结局
未报告次要终点
研究者
研究点 (25)
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