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

NCT ID: NCT02851134

Last Updated: 2019-02-28

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 20 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-04-30
• Study Completion Date: 2018-04-30

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.

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.

Conditions

Crohn Disease

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Study Groups

Crohn disease subject

Crohn disease affected subject

genetic analysis

Intervention Type: GENETIC

genetic (Whole Exome Sequencing )

blood and stools samples

Intervention Type: BIOLOGICAL

biological collection

family control subject

family control unaffected subject

genetic analysis

Intervention Type: GENETIC

genetic (Whole Exome Sequencing )

blood and stools samples

Intervention Type: BIOLOGICAL

biological collection

Interventions

genetic analysis

genetic (Whole Exome Sequencing )

Intervention Type: GENETIC

blood and stools samples

biological collection

Intervention Type: BIOLOGICAL

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• Pregnant or lactating women

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Lille

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Corinne Gower, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Lille

Locations

CHRU, Hôpital Claude Huriez

Lille, , France

Countries

France

References

Frade-Proud'Hon-Clerc S, Smol T, Frenois F, Sand O, Vaillant E, Dhennin V, Bonnefond A, Froguel P, Fumery M, Guillon-Dellac N, Gower-Rousseau C, Vasseur F. A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease. Int J Mol Sci. 2019 Feb 15;20(4):835. doi: 10.3390/ijms20040835.

Reference Type: RESULT

PMID: 30769939 (View on PubMed)

Other Identifiers

2014-A00023-44

Identifier Type: OTHER

Identifier Source: secondary_id

2013_53

Identifier Type: -

Identifier Source: org_study_id