Ignite Creation Date:
2025-12-24 @ 10:06 PM
Ignite Modification Date:
2026-01-02 @ 5:03 AM
Study NCT ID:
NCT04006535
Status:
RECRUITING
Last Update Posted:
2019-07-08
First Post:
2019-07-01
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D014657', 'term': 'Vasculitis'}], 'ancestors': [{'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D005820', 'term': 'Genetic Testing'}], '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'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Saliva samples will be collected for genetic analysis and identification of susceptibility loci and genes for the risk of vasculitis.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2019-06-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-07', 'completionDateStruct': {'date': '2029-06-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2019-07-03', 'studyFirstSubmitDate': '2019-07-01', 'studyFirstSubmitQcDate': '2019-07-01', 'lastUpdatePostDateStruct': {'date': '2019-07-08', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-07-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2029-06-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of susceptibility loci and genes', 'timeFrame': 'At the moment of enrollment'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Vasculitis'], 'conditions': ['Vasculitis']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://www.vascularites.org', 'label': 'Related Info'}]}, 'descriptionModule': {'briefSummary': 'The FAMILYVASC study is a prospective observational study which will aim to identify susceptibility loci and genes for systemic vasculitis risk in patients with familial or pediatric forms of vasculitis. Genetic analysis based on whole exome sequencing will be carried out through salivary DNA.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "Adult and childhood patients (no age limit) with familial and pediatric forms of vasculitis as defined in Chapel Hill's international nomenclature in its revised 2012 version.", 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion criteria for subjects with vasculitis\n\n* Children and adults\n* Patients with vasculitis, as defined in the Chapel Hill International Classification in its revised version of 2012\n* Patient information and signed informed consent\n* Pregnant and breastfeeding women can be included in the study\n\nInclusion criteria for healthy subjects\n\n* Children and adults\n* Do not have vasculitis, as defined in the Chapel Hill International Classification in its revised version of 2012, or relatives on the 1st; 2nd; 3rd or 4th degree of a patient with vasculitis\n* Patient information and signed informed consent\n* Pregnant and breastfeeding women can be included in the study\n\nExclusion criteria:\n\n* Refusal of consent or inability to obtain consent\n* Dementia or unauthorized patient, for psychiatric or intellectual failure reasons, to receive information about the protocol and to give informed consent.\n* Uncooperative patient, or any pathology that could make the patient potentially non-compliant to the study procedures, and patients interned for regulatory or legal reasons.'}, 'identificationModule': {'nctId': 'NCT04006535', 'acronym': 'FAMILYVASC', 'briefTitle': 'Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis', 'organization': {'class': 'OTHER', 'fullName': 'French Vasculitis Study Group'}, 'officialTitle': 'Identification of Susceptibility Loci and Genes for Systemic Vasculitis Risk, by Analyzing Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis (FAMILYVASC Study)', 'orgStudyIdInfo': {'id': '2019-A00188-49'}}, 'armsInterventionsModule': {'interventions': [{'name': 'genetic analysis', 'type': 'GENETIC', 'description': 'Saliva sample collection for genetic analysis'}]}, 'contactsLocationsModule': {'locations': [{'zip': '75014', 'city': 'Paris', 'state': 'Île-de-France Region', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Benjamin Terrier, MD, PhD', 'role': 'CONTACT', 'email': 'benjamin.terrier@aphp.fr', 'phone': '+ 01 58 41 14 61'}], 'facility': 'Hôpital Cochin - Department of Internal Medicine', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Benjamin Terrier, MD, PhD', 'role': 'CONTACT', 'email': 'benjamin.terrier@aphp.fr', 'phone': '+33 1 58 41 14 61'}, {'name': 'Hicham Kardaoui, MSc', 'role': 'CONTACT', 'email': 'hicham.kardaoui@aphp.fr', 'phone': '+33 1 58 41 16 46'}], 'overallOfficials': [{'name': 'Benjamin Terrier, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'French Vasculitis Study Group'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Benjamin Terrier', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Benjamin Terrier', 'investigatorAffiliation': 'French Vasculitis Study Group'}}}}