Ignite Creation Date:
2025-12-24 @ 11:43 PM
Ignite Modification Date:
2026-01-02 @ 9:36 AM
Study NCT ID:
NCT03680651
Status:
UNKNOWN
Last Update Posted:
2018-09-21
First Post:
2018-08-30
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D061085', 'term': 'Agenesis of Corpus Callosum'}], 'ancestors': [{'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020763', 'term': 'Pathological Conditions, Anatomical'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 275}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2018-06-18', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-06', 'completionDateStruct': {'date': '2018-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2018-09-20', 'studyFirstSubmitDate': '2018-08-30', 'studyFirstSubmitQcDate': '2018-09-20', 'lastUpdatePostDateStruct': {'date': '2018-09-21', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-09-21', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2018-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'frequency of chromosomal abnormalities', 'timeFrame': '6 months', 'description': 'The main objective is to describe the frequency of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis in the hope of improving genetic counseling.'}], 'secondaryOutcomes': [{'measure': 'Type of chromosomal abnormalities', 'timeFrame': '6 months', 'description': 'Describe the type of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis and thus identify recurrent copy number variations.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Corpus Callosum Malformation', 'Prenatal Disorder']}, 'descriptionModule': {'briefSummary': 'Corpus callosum malformation (CCM) is the most frequently detected cerebral defect diagnosed in the prenatal setting. The most common CCM is corpus callosum agenesis (CCA) which is found in 2 to 3% of patients presenting with intellectual disability.\n\nWhen CCM is diagnosed, the risk of chromosomal disorder is estimated to be 16%, be it aneuploidy such as trisomy 18, trisomy 13 or mosaic trisomy 8, or a chromosome structure anomaly, copy number variation or more complex rearrangement In France, since 2013 oligoarray-based comparative genomic hybridization (aCGH) analysis is performed in the prenatal period for most malformations after approval by a multidisciplinary prenatal diagnosis ethics committee (Centre Pluridisciplinaire de Diagnostic Prénatal, CPDPN) . However, to date only a few studies have been published which report recurrent Copy Number Variations (CNV) associated with CCM and estimate the risk for a chromosomal disorder, thus making counseling difficult in this context of prenatal diagnosis.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT'], 'maximumAge': '55 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Fetuses with prenatal diagnosis of corpus callosum malformation and antenatal molecular analysis by array CGH performed', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Prenatal diagnosis of corpus callosum malformation, isolated or not, between 01/01/2013, and 31/05/2018\n* Fetal DNA available\n* Mother's informed consent obtained\n\nExclusion Criteria:\n\n* No amniocentesis performed\n* Refusing to participate"}, 'identificationModule': {'nctId': 'NCT03680651', 'acronym': 'AGMCC1318', 'briefTitle': 'Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Brest'}, 'officialTitle': 'Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation', 'orgStudyIdInfo': {'id': 'AGMCC1318 (29BRC18.0123)'}}, 'contactsLocationsModule': {'locations': [{'zip': '29200', 'city': 'Brest', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Anne-Hélène Saliou, MD', 'role': 'CONTACT', 'email': 'anne-helene.saliou@chu-brest.fr', 'phone': '02 29 02 00 12'}, {'name': 'Charlotte Caille-Benigni, Resident', 'role': 'CONTACT', 'email': 'charlotte.caillebenigni@chu-brest.fr', 'phone': '06 50 22 85 93'}], 'facility': 'CHRU de Brest', 'geoPoint': {'lat': 48.39029, 'lon': -4.48628}}], 'centralContacts': [{'name': 'Anne-Hélène Saliou, MD', 'role': 'CONTACT', 'email': 'anne-helene.saliou@chu-brest.fr', 'phone': '02 29 02 00 12'}, {'name': 'Charlotte Caille-Benigni, Resident', 'role': 'CONTACT', 'email': 'charlotte.caillebenigni@chu-brest.fr', 'phone': '06 50 22 85 93'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Brest', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}