Search for New Genetic Mutations Major Effect in Crohn's Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- NOD2 gene status
研究概览
简要总结
This study highlight genetics mutations with major effect in Crohn's Disease (CD) by WES in individuals affected and healthy individuals from EPIMAD Inserm InVS registry families.
详细描述
The EPIMAD Registry covers a large area of Northern France (9 millions inhabitants) and collects all incident CD cases and data from CD multiplex families (families with 3 or more CD affected patients) in the Nord the Pas de Calais the Somme and the Seine Maritime. If the investigators could demonstrate that most CD cases from multiplex families were related to high frequency of NOD2 gene mutations, the investigators found some CD multiplex families without any NOD2 gene involvement. Thus in these families high prevalence of CD cases may rely on other major genetic susceptibility variant(s) that remain to be determined.
this clinical research Whole Exome Sequencing protocol, aiming to highlight genetics mutations with major effect in CD has been initiated.
This study is a familial genetic study with intra-familial controls. The genetics analyses are:
- Ascertain of no significant NOD2 mutation in the family members by Sanger DNA sequencing
- WES (CD patients and family controls unaffected subjects)
- Genotyping of all mutations found, case control and segregation analyses to validate their implication in CD.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Crohn disease subject
- •EPIMAD family with, at least, 3 Crohn disease subjects
排除标准
- •Pregnant or lactating women
结局指标
主要结局
NOD2 gene status
时间窗: 8 months after recruiting
One of the main inclusion criteria is the absence in the family (and thus in the proband) of any NOD2 mutation that could be related with the high occurrence of Crohn's Disease in the family. So verification of the lack of CD related NOD2 gene mutation is a prerequisite to the inclusion of the family in the protocol. This is achieved by Sanger sequencing of all exons, exon-intron junctions and search for already described intronic mutations in the family proband.
次要结局
- Whole Exome Sequencing(10 months after recruiting)