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Completed

NCT Number: NCT02851134

Search for New Genetic Mutations Major Effect in Crohn's Disease

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.

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Key information

Conditions

Crohn Disease Digestive System Diseases Gastroenteritis Gastrointestinal Diseases Inflammatory Bowel Diseases Intestinal Diseases

Age range

5 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

CHRU, Hôpital Claude Huriez

Lille, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Crohn disease subject
  • EPIMAD family with, at least, 3 Crohn disease subjects

Exclusion criteria

  • Pregnant or lactating women

Treatment and study plan

Genetic analysis

Genetic

genetic (Whole Exome Sequencing )

blood and stools samples

Biological

biological collection

Primary outcomes

  1. NOD2 gene status

    Time frame: 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.

Secondary outcomes

  1. Whole Exome Sequencing

    Time frame: 10 months after recruiting

    Whole Exome Sequencing will be performed in every subject from all families. All genetic variants will be filtered with bioinformatic tools. Genetic variants with putative biological effect, presents in affected CD patients and absents in their unaffected relatives will be further investigated (i.e. cosegregation with the disease, involvement in a given pathway....). This study remains a "pilot study" to identify genetic variants that may be involved in Crohn's Disease.

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Registry information

Acronym: MC-WES

Important dates

Study start
2015
Primary completion
2018
Study completion
2018
First posted
Aug 1, 2016
Registry last updated
Feb 28, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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