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Search for New Genetic Mutations Major Effect in Crohn's Disease (MC-WES)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02851134
Recruitment Status : Completed
First Posted : August 1, 2016
Last Update Posted : February 28, 2019
Information provided by (Responsible Party):
University Hospital, Lille

Brief Summary:
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.

Condition or disease Intervention/treatment
Crohn Disease Genetic: genetic analysis Biological: blood and stools samples

Detailed Description:

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.

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Study Type : Observational
Actual Enrollment : 20 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Search for New Genetic Mutations Major Effect in Crohn's Disease
Actual Study Start Date : April 2015
Actual Primary Completion Date : April 2018
Actual Study Completion Date : April 2018

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Crohn's Disease

Group/Cohort Intervention/treatment
Crohn disease subject
Crohn disease affected subject
Genetic: genetic analysis
genetic (Whole Exome Sequencing )

Biological: blood and stools samples
biological collection

family control subject
family control unaffected subject
Genetic: genetic analysis
genetic (Whole Exome Sequencing )

Biological: blood and stools samples
biological collection

Primary Outcome Measures :
  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 Outcome Measures :
  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.

Biospecimen Retention:   Samples With DNA
blood samples stools samples

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Crohn disease subject

Inclusion Criteria:

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

Exclusion Criteria:

  • Pregnant or lactating women

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02851134

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CHRU, Hôpital Claude Huriez
Lille, France
Sponsors and Collaborators
University Hospital, Lille
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Principal Investigator: Corinne Gower, MD, PhD University Hospital, Lille

Publications of Results:
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Responsible Party: University Hospital, Lille Identifier: NCT02851134     History of Changes
Other Study ID Numbers: 2013_53
2014-A00023-44 ( Other Identifier: ID-RCB number, ANSM )
First Posted: August 1, 2016    Key Record Dates
Last Update Posted: February 28, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by University Hospital, Lille:

Additional relevant MeSH terms:
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Crohn Disease
Inflammatory Bowel Diseases
Gastrointestinal Diseases
Digestive System Diseases
Intestinal Diseases