Ignite Creation Date:
2025-12-24 @ 3:31 PM
Ignite Modification Date:
2026-03-04 @ 11:10 PM
Study NCT ID:
NCT03600792
Status:
COMPLETED
Last Update Posted:
2021-01-19
First Post:
2018-06-10
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
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'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D000073359', 'term': 'Exome Sequencing'}], 'ancestors': [{'id': 'D000073336', 'term': 'Whole Genome Sequencing'}, {'id': 'D017422', 'term': 'Sequence Analysis, DNA'}, {'id': 'D017421', 'term': 'Sequence Analysis'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 31}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-08-28', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-01', 'completionDateStruct': {'date': '2019-10-19', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2021-01-15', 'studyFirstSubmitDate': '2018-06-10', 'studyFirstSubmitQcDate': '2018-07-16', 'lastUpdatePostDateStruct': {'date': '2021-01-19', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-07-26', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2019-10-19', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Technical success', 'timeFrame': '5th week post diagnosis', 'description': 'Rate of technical success'}], 'secondaryOutcomes': [{'measure': 'Genetic diagnosis', 'timeFrame': '5th week post diagnosis', 'description': 'Rate of genetic diagnoses'}, {'measure': 'Technical failure', 'timeFrame': 'up to 4 months', 'description': 'Rate of technical failures'}, {'measure': 'Delay to genetic diagnosis Result', 'timeFrame': 'up to 4 months', 'description': 'Delay between the ACC diagnosis and genetic sequencing known genes responsible for ACC'}, {'measure': 'Parents decision to continue pregnancy', 'timeFrame': 'up to 4 months', 'description': 'Number of continued pregnancies'}, {'measure': 'Parents decision to interrupt pregnancy', 'timeFrame': 'up to 4 months', 'description': 'Number of interrupted pregnancies'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Agenesis of the corpus callosum', 'whole exome sequencing', 'prenatal diagnosis'], 'conditions': ['Fetal Agenesis of the Corpus Callosum (ACC)']}, 'descriptionModule': {'briefSummary': 'Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of uncertain neurodevelopmental outcome, depending on the genetic cause of ACC. Our purpose is to evaluate the feasibility of sequencing known genes responsible for ACC by whole exome sequencing (WES) in trio (fetus and both parents) when ACC is diagnosed during the pregnancy, in order to provide complete and loyal information on the intellectual prognosis for the fetus.', 'detailedDescription': 'Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations. The neurodevelopmental outcome of patients with ACC is extremely variable, ranging from normal intelligence to severe intellectual disability (ID). When ACC is discovered during the prenatal period, prenatal counseling is challenging because of this uncertain neurodevelopmental outcome. Currently, only chromosomal analyses are performed in cases of prenatal diagnoses, which are expected to bring the diagnosis in only few cases. No molecular studies of genes implied in ACC with or without ID are performed. Then, the couples are in the difficult situation of continuing or interrupting the pregnancy without complete information about the aetiology of ACC.\n\nAll patients will have a consultation with an obstetrician and consultations with a paediatric neurologist and a geneticist. The geneticist will explain WES and its issues. Both parents will have to provide informed consent for the study.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '30 trios (fetus and both parents) with confirmed diagnosis of fetal ACC during the 2nd or 3rd trimesters of pregnancy and who wish to perform molecular prenatal sequencing by WES.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Age ≥ 18 years old\n* ACC diagnosed prenatally during the 2nd trimester of pregnancy, confirmed by ultrasound by a referee\n* Fetal sample (amniotic fluid, 10 ml) et blood samples of both parents (2 tubes of 5 ml EDTA)\n* Covered by social security\n* Written consent obtain for routine and research genetic analysis\n\nExclusion Criteria:\n\n* Refusal to participate from one or both parents\n* Pregnancies obtained with gamete donation (trio sequencing not feasible)\n* If one parent is not available (trio sequencing not feasible)\n* Inability to understand the given information\n* One or both parents under juridical protection'}, 'identificationModule': {'nctId': 'NCT03600792', 'acronym': 'EXACC', 'briefTitle': 'Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum', 'orgStudyIdInfo': {'id': 'NI18011J'}}, 'armsInterventionsModule': {'interventions': [{'name': 'whole exome sequencing (WES)', 'type': 'GENETIC', 'description': 'WES analysis will be performed in the "UF de Génomique du Développement" (APHP, Pitié-Salpêtrière hospital), using DNA extracted from amniotic fluid for the foetus (also used for chromosomal studies) and DNA extracted from peripheral blood for both parents. There will be no supplemental invasive sampling for this study. The result of WES will be returned during a consultation with the geneticist and the associated prognosis will be explained in case of molecular diagnosis'}]}, 'contactsLocationsModule': {'locations': [{'zip': '75013', 'city': 'Paris', 'country': 'France', 'facility': 'Groupe Hospitalier Pitié-Salpêtrière', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Héron Delphine, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'APHP'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}