Ignite Creation Date:
2025-12-24 @ 5:00 PM
Ignite Modification Date:
2025-12-29 @ 9:11 PM
Study NCT ID:
NCT02854150
Status:
COMPLETED
Last Update Posted:
2018-09-11
First Post:
2016-07-26
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D016135', 'term': 'Spinal Dysraphism'}], 'ancestors': [{'id': 'D009436', 'term': 'Neural Tube Defects'}, {'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'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 106}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-09'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-09', 'completionDateStruct': {'date': '2016-06-30', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-09-10', 'studyFirstSubmitDate': '2016-07-26', 'studyFirstSubmitQcDate': '2016-08-02', 'lastUpdatePostDateStruct': {'date': '2018-09-11', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-08-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-06-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)', 'timeFrame': 'through study completion, an average of 1 year'}]}, 'conditionsModule': {'conditions': ['Spina Bifida']}, 'descriptionModule': {'briefSummary': 'The main objective is to improve genetic counseling in patients with Spina Bifida, by the characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida. These patients gave their written agreement for studying genes which could be involved in Spina Bifida.\n\nExclusion Criteria:\n\n* Patients who refused to give their authorization to perform the sequencing of genes involved in Spina Bifida on their DNA'}, 'identificationModule': {'nctId': 'NCT02854150', 'acronym': 'EXOSPINA', 'briefTitle': 'Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing', 'organization': {'class': 'OTHER', 'fullName': 'Rennes University Hospital'}, 'officialTitle': 'Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing', 'orgStudyIdInfo': {'id': '35RC14_9736'}}, 'armsInterventionsModule': {'interventions': [{'name': 'characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.', 'type': 'GENETIC'}]}, 'contactsLocationsModule': {'locations': [{'zip': '35033', 'city': 'Rennes', 'country': 'France', 'facility': 'Centre hospitalier universitaire de RENNES', 'geoPoint': {'lat': 48.11109, 'lon': -1.67431}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Rennes University Hospital', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}