Ignite Creation Date:
2025-12-24 @ 5:12 PM
Ignite Modification Date:
2026-02-22 @ 10:28 PM
Study NCT ID:
NCT02509650
Status:
UNKNOWN
Last Update Posted:
2016-10-10
First Post:
2015-07-15
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D012871', 'term': 'Skin Diseases'}], 'ancestors': [{'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 25}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2015-09'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-10', 'completionDateStruct': {'date': '2018-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2016-10-07', 'studyFirstSubmitDate': '2015-07-15', 'studyFirstSubmitQcDate': '2015-07-27', 'lastUpdatePostDateStruct': {'date': '2016-10-10', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2015-07-28', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2018-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of patients with a deleterious mutation', 'timeFrame': '6 months', 'description': 'Validation of the exome sequencing results will be done by sanger sequencing'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Exome sequencing', 'Skin disease', 'Familial lipomatosis'], 'conditions': ['Familial Lipomatosis', 'Very Rare Dermatologic Diseases']}, 'descriptionModule': {'briefSummary': 'The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.\n\nThe secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. This work could help in the understanding of the physiopathology of very rare skin disorders.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '2 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Familial lipomatosis', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* patients affected by familial lipomatosis\n* patients with rare dermatologic disease without molecular diagnosis\n* written informed consent is obtained from the patient and his/her family\n\nExclusion Criteria:\n\n* the patient does not want to participate to the protocol\n* the patient is already included in another study using next generation sequencing technologies'}, 'identificationModule': {'nctId': 'NCT02509650', 'acronym': 'DERMA-SEQ', 'briefTitle': 'Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Strasbourg, France'}, 'officialTitle': 'Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing', 'orgStudyIdInfo': {'id': '6024'}}, 'contactsLocationsModule': {'locations': [{'zip': '67091', 'city': 'Strasbourg', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Salima EL CHEHADEH, MD', 'role': 'CONTACT', 'email': 'salima.elchehadeh@chru-strasbourg.fr', 'phone': '33.3.88.12.81.25'}, {'name': 'Salima EL CHEHADEH, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Hélène DOLLFUS, MD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg', 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}, {'zip': '67091', 'city': 'Strasbourg', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Dan LIPSKER, MD', 'role': 'CONTACT', 'email': 'dan.lipsker@chru-strasbourg.fr', 'phone': '33.3.88.11.61.79'}, {'name': 'Dan LIPSKER, MD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg', 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}], 'centralContacts': [{'name': 'Salima EL CHEHADEH, MD', 'role': 'CONTACT', 'email': 'salima.elchehadeh@chru-strasbourg.fr', 'phone': '33.3.88.12.81.20'}, {'name': 'Dan LIPSKER, MD', 'role': 'CONTACT', 'email': 'dan.lipsker@chru-strasbourg.fr', 'phone': '33.3.88.11.61.79'}], 'overallOfficials': [{'name': 'Salima EL CHEHADEH, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Hôpitaux Universitaires de Strasbourg'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Strasbourg, France', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}