Ignite Creation Date:
2025-12-25 @ 2:38 AM
Ignite Modification Date:
2026-02-26 @ 12:37 AM
Study NCT ID:
NCT03293134
Status:
COMPLETED
Last Update Posted:
2017-09-26
First Post:
2017-05-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C537271', 'term': 'Fowler Christmas Chapple syndrome'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood, cells cultivated, extracted DNA and fetal tissue.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 25}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-07-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-03', 'completionDateStruct': {'date': '2016-10-06', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-09-21', 'studyFirstSubmitDate': '2017-05-02', 'studyFirstSubmitQcDate': '2017-09-21', 'lastUpdatePostDateStruct': {'date': '2017-09-26', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-09-26', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2015-03-09', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Morphological analysis', 'timeFrame': 'throughout the study: 36 months', 'description': 'Morphological analysis : characterisation of cellular lesions by immunolabelling with endothelial markers such as CD34 and CD31, pericytic markers (smooth muscle actin and proteoglycan NG2) and astrocytic markers (GFAP)'}], 'secondaryOutcomes': [{'measure': 'Identification of novel disease', 'timeFrame': 'throughout the study: 36 months', 'description': 'Identification of novel disease causing genes in addition to FLVCR2 by whole exome sequencing.\n\nFetus with clinical VPCA and no FLVCR2 mutation found by Sanger sequencing, will be studied by whole exome sequencing in order to find mutation in other genes that could explain the phenotype.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Fowler syndrome'], 'conditions': ['Proliferative Vasculopathy']}, 'referencesModule': {'references': [{'pmid': '20690116', 'type': 'RESULT', 'citation': 'Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonniere M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerriere A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attie-Bitach T. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329.'}]}, 'descriptionModule': {'briefSummary': "As principal objective, the study aims to:\n\n1. Describe the spectrum and evaluate the frequency of angiodysplasia of the nevrax;\n2. Establish the physiopathological basis of Fowler's syndrome;\n3. Identify FLVCR2 partners and the signaling pathways involved;\n4. Test new candidate genes: GPR124 and possible partners of FLVCR2.\n\nAs second objective, the study aims to:\n\n* perform phenotype / genotype correlation if necessary;\n* and propose a prenatal diagnosis in families with identified mutations."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Intrauterine fetal death and those from termination of pregnancy for fetal abnormality.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Angiodysplasia restricted to central nervous system with or without glomerular vasculopathy.\n* Informed consent signed.\n\nExclusion Criteria:\n\n* Vascular malformations not confined to the nevrax.\n* No signature of consent.'}, 'identificationModule': {'nctId': 'NCT03293134', 'acronym': 'VPCA', 'briefTitle': 'Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy', 'orgStudyIdInfo': {'id': 'NI11031'}}, 'contactsLocationsModule': {'locations': [{'zip': '75006', 'city': 'Paris', 'country': 'France', 'facility': 'Hôpital Necker Enfants Malades, APHP', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Tania Attié-Bitach, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Hôpital Necker Enfants Malades, APHP'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}