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

NCT02851134 | Completed

• 2 other identifiers: 2013_532014-A00023-44
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

Crohn Disease

Keywords

genetic

Outcome Measures

Primary Outcomes (1)

• NOD2 gene status

  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.

  8 months after recruiting

Secondary Outcomes (1)

• Whole Exome Sequencing

  10 months after recruiting

Study Arms (2)

Crohn disease subject

Crohn disease affected subject

Genetic: genetic analysis; Biological: blood and stools samples

family control subject

family control unaffected subject

Genetic: genetic analysis; Biological: blood and stools samples

Interventions

genetic analysis GENETIC

genetic (Whole Exome Sequencing )

Crohn disease subject; family control subject

blood and stools samples BIOLOGICAL

biological collection

Crohn disease subject; family control subject

Eligibility Criteria

• Age: 5 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Crohn disease subject

You may qualify if:

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

You may not qualify if:

• Pregnant or lactating women

Sponsors & Collaborators

• University Hospital, Lille: lead

Study Sites (1)

CHRU, Hôpital Claude Huriez

Lille, France

Location

Related Publications (1)

• 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.

  PMID: 30769939 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

blood samples stools samples

MeSH Terms

Conditions

Crohn Disease

Interventions

Genetic Testing; Blood Specimen Collection

Condition Hierarchy (Ancestors)

Inflammatory Bowel Diseases; Gastroenteritis; Gastrointestinal Diseases; Digestive System Diseases; Intestinal Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services; Specimen Handling; Punctures; Surgical Procedures, Operative

Study Officials

• Corinne Gower, MD, PhD

  University Hospital, Lille

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 7, 2016
• First Posted: August 1, 2016
• Study Start: April 1, 2015
• Primary Completion: April 1, 2018
• Study Completion: April 1, 2018
• Last Updated: February 28, 2019

Record last verified: 2019-02

Locations

FR (1)