Ignite Creation Date:
2025-12-25 @ 2:22 AM
Ignite Modification Date:
2026-02-26 @ 12:19 AM
Study NCT ID:
NCT02851134
Status:
COMPLETED
Last Update Posted:
2019-02-28
First Post:
2016-06-07
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Search for New Genetic Mutations Major Effect in Crohn's Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003424', 'term': 'Crohn Disease'}], 'ancestors': [{'id': 'D015212', 'term': 'Inflammatory Bowel Diseases'}, {'id': 'D005759', 'term': 'Gastroenteritis'}, {'id': 'D005767', 'term': 'Gastrointestinal Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D007410', 'term': 'Intestinal Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D005820', 'term': 'Genetic Testing'}, {'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}, {'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'blood samples stools samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 20}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-04', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-02', 'completionDateStruct': {'date': '2018-04', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2019-02-26', 'studyFirstSubmitDate': '2016-06-07', 'studyFirstSubmitQcDate': '2016-07-27', 'lastUpdatePostDateStruct': {'date': '2019-02-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-08-01', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2018-04', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'NOD2 gene status', 'timeFrame': '8 months after recruiting', 'description': "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."}], 'secondaryOutcomes': [{'measure': 'Whole Exome Sequencing', 'timeFrame': '10 months after recruiting', 'description': '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.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['genetic'], 'conditions': ['Crohn Disease']}, 'referencesModule': {'references': [{'pmid': '30769939', 'type': 'RESULT', 'citation': "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."}]}, 'descriptionModule': {'briefSummary': "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.", 'detailedDescription': '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.\n\nthis clinical research Whole Exome Sequencing protocol, aiming to highlight genetics mutations with major effect in CD has been initiated.\n\nThis study is a familial genetic study with intra-familial controls. The genetics analyses are:\n\n* Ascertain of no significant NOD2 mutation in the family members by Sanger DNA sequencing\n* WES (CD patients and family controls unaffected subjects)\n* Genotyping of all mutations found, case control and segregation analyses to validate their implication in CD.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '5 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Crohn disease subject', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Crohn disease subject\n* EPIMAD family with, at least, 3 Crohn disease subjects\n\nExclusion Criteria:\n\n* Pregnant or lactating women'}, 'identificationModule': {'nctId': 'NCT02851134', 'acronym': 'MC-WES', 'briefTitle': "Search for New Genetic Mutations Major Effect in Crohn's Disease", 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Lille'}, 'officialTitle': "Search for New Genetic Mutations Major Effect in Crohn's Disease", 'orgStudyIdInfo': {'id': '2013_53'}, 'secondaryIdInfos': [{'id': '2014-A00023-44', 'type': 'OTHER', 'domain': 'ID-RCB number, ANSM'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Crohn disease subject', 'description': 'Crohn disease affected subject', 'interventionNames': ['Genetic: genetic analysis', 'Biological: blood and stools samples']}, {'label': 'family control subject', 'description': 'family control unaffected subject', 'interventionNames': ['Genetic: genetic analysis', 'Biological: blood and stools samples']}], 'interventions': [{'name': 'genetic analysis', 'type': 'GENETIC', 'description': 'genetic (Whole Exome Sequencing )', 'armGroupLabels': ['Crohn disease subject', 'family control subject']}, {'name': 'blood and stools samples', 'type': 'BIOLOGICAL', 'description': 'biological collection', 'armGroupLabels': ['Crohn disease subject', 'family control subject']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Lille', 'country': 'France', 'facility': 'CHRU, Hôpital Claude Huriez', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}], 'overallOfficials': [{'name': 'Corinne Gower, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Hospital, Lille'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Lille', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}