Ignite Creation Date:
2025-12-24 @ 10:45 PM
Ignite Modification Date:
2025-12-25 @ 8:15 PM
Study NCT ID:
NCT01114035
Status:
COMPLETED
Last Update Posted:
2013-08-02
First Post:
2010-04-29
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 41}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2010-04'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2013-08', 'completionDateStruct': {'date': '2013-07', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2013-08-01', 'studyFirstSubmitDate': '2010-04-29', 'studyFirstSubmitQcDate': '2010-04-29', 'lastUpdatePostDateStruct': {'date': '2013-08-02', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2010-04-30', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2013-04', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'gene identification', 'timeFrame': '6 months', 'description': 'identification of different family of genes involved in intestinal dysplasia'}], 'secondaryOutcomes': [{'measure': 'mutation identification', 'timeFrame': '6 months', 'description': 'Identification of different mutations involved in intestinal dysplasia'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['intestinal epithelial dysplasia', 'characterization phenotypic', 'genetic study', 'or " tufting enteropathy "'], 'conditions': ['Intestinal Epithelial Dysplasia', 'Tufting Enteropathy']}, 'descriptionModule': {'briefSummary': 'This PHRC is centred on the intestinal epithelial dysplasia ( DEI) or " tufting enteropathy " or TE the clinical and histo-pathological descriptions of which are specified well to the digestive plan(shot).', 'detailedDescription': 'The objectives of this PHRC are:\n\n* the phenotypic analysis of the intestinal epithelial dysplasia by clinical and histo-pathological investigations.\n* the identification of proteins involved at the intestinal level in the differentiation, the proliferation and the membership of the epithelial cells\n* from the phenotypic study, a genetic analysis of type maps by homozygote on the whole genome partner in an approach guided by possible candidate genes\n* the study of the genes, chosen according to their location, to their profile of expression, and to their function in touch with the pathogenic hypotheses'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '15 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria :\n\nPatient sent in the service of Gastroenterology Pediatric Hepatology of the Hospital Necker Enfants Malades for an intestinal transplantation, from 0 to 15 years old presenting:\n\n* A known epithelial dysplasia (Diagnosis established on the clinical and histo-morphological criteria from one or several intestinal biopsies, with or without diagnosis known or suspected in the family). The objectives are the phenotypic characterization of the case and the revealing of markers characteristic immuno-histochemistry which can be of use to the diagnosis and direct to candidate genes\n* Or a suspicion of dysplasia epithelial (compatible clinical History(Story) with or without extra-digestive demonstrations(appearances) of type keratinate punctuated superficial (KPS), abnormalities cutanea or atresia CHOANS with atypical digestive histology and without diagnosis known in the family). The objectives are the diagnosis on the basis of the immuno-histochemistry expression and the existence of an infringement(achievement) conjunctival and the phenotypic characterization of the case\n* The lit(enlightened) and written consent of both holders of the parental authority must be beforehand obtained as well as that of the patient if it is in age to understand(include).\n\nExclusion criteria :\n\n* Not membership in a national insurance scheme (beneficiary or legal successor)\n* Family not understanding(including) French\n* Refusal of one of both relatives(parents)'}, 'identificationModule': {'nctId': 'NCT01114035', 'acronym': 'DEI', 'briefTitle': 'Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE', 'orgStudyIdInfo': {'id': 'P 070163'}, 'secondaryIdInfos': [{'id': 'ID RCB 2009-A01522-53', 'type': 'OTHER', 'domain': 'AFSSAPS'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Patients', 'description': 'intestinal epithelial dysplasia', 'interventionNames': ['Genetic: blood samples and skin biopsies']}, {'type': 'OTHER', 'label': 'Control', 'description': 'Children without intestinal epithelial dysplasia', 'interventionNames': ['Genetic: Skin biopsies']}], 'interventions': [{'name': 'blood samples and skin biopsies', 'type': 'GENETIC', 'description': 'to detect mutations', 'armGroupLabels': ['Patients']}, {'name': 'Skin biopsies', 'type': 'GENETIC', 'otherNames': ['to detect mutations'], 'description': 'to detect mutations', 'armGroupLabels': ['Control']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75015', 'city': 'Paris', 'country': 'France', 'facility': 'Necker Hospital', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Olivier Goulet, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Assistance Publique - Hôpitaux de Paris'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}