Ignite Creation Date:
2025-12-25 @ 2:22 AM
Ignite Modification Date:
2026-02-27 @ 4:22 AM
Study NCT ID:
NCT02862834
Status:
COMPLETED
Last Update Posted:
2016-08-11
First Post:
2016-08-05
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Screening for Genes in Patients With Poikiloderma
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 39}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-05'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-08', 'lastUpdateSubmitDate': '2016-08-10', 'studyFirstSubmitDate': '2016-08-05', 'studyFirstSubmitQcDate': '2016-08-10', 'lastUpdatePostDateStruct': {'date': '2016-08-11', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2016-08-11', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2015-09', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of novel genes involved in syndromic poikiloderma', 'timeFrame': 'day 1'}]}, 'conditionsModule': {'conditions': ['Poikiloderma']}, 'descriptionModule': {'briefSummary': 'In the context of this study, the investigators wish to take advantage of high-throughput genetic techniques (microarray and high-throughput exome sequencing) to identify new genes implicated in syndromic poikiloderma so as to improve the diagnostic decision tree in these syndromes, opportunities for genetic counselling for patients and their families and the follow-up of patients, notably with regard to the risk of tumours.\n\nThis study will make it possible to identify new genes implicated in syndromic poikiloderma and improve the diagnostic strategy proposed to patients with these syndromes, and to propose to patients a confirmed diagnosis, appropriate follow-up, notably with regard to the risk of tumours, genetic counselling to families and eventually an antenatal diagnosis to couples who would like to have one for future pregnancies.\n\nThe identification of new genetic causes of syndromic poikiloderma will also make it possible to complete the current classification of these syndromes'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'patients with poikiloderma', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\npatients with syndromic poikiloderma, defined by the association of poikiloderma with other extradermatological clinical signs,\n\n* normal array-CGH, screening for chromosomal rearrangements,\n* absence of mutations in the genes RECQL4, KIND1 or C16orf57,\n* sporadic or familial involvement.\n\nExclusion Criteria:\n\n* None'}, 'identificationModule': {'nctId': 'NCT02862834', 'acronym': 'poikiloderma', 'briefTitle': 'Screening for Genes in Patients With Poikiloderma', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Universitaire Dijon'}, 'officialTitle': 'Towards an Improvement in Diagnosis and Genetic Counselling in Syndromic Poikiloderma', 'orgStudyIdInfo': {'id': 'Courcet AOI 2012'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'patients with poikiloderma', 'interventionNames': ['Genetic: High-throughput exome sequencing']}], 'interventions': [{'name': 'High-throughput exome sequencing', 'type': 'GENETIC', 'armGroupLabels': ['patients with poikiloderma']}]}, 'contactsLocationsModule': {'locations': [{'zip': '21079', 'city': 'Dijon', 'country': 'France', 'facility': 'CHU Dijon Bourgogne', 'geoPoint': {'lat': 47.31344, 'lon': 5.01391}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Universitaire Dijon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}