Ignite Creation Date:
2025-12-24 @ 4:14 PM
Ignite Modification Date:
2025-12-24 @ 4:14 PM
Study NCT ID:
NCT03984266
Status:
COMPLETED
Last Update Posted:
2022-04-12
First Post:
2019-06-07
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}], 'ancestors': [{'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 3423}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-10-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-04', 'completionDateStruct': {'date': '2021-12-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2022-04-11', 'studyFirstSubmitDate': '2019-06-07', 'studyFirstSubmitQcDate': '2019-06-11', 'lastUpdatePostDateStruct': {'date': '2022-04-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-06-12', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-12-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Mortality', 'timeFrame': 'At corrected age of 18 months', 'description': 'Incidence of death'}, {'measure': 'Disability Rate', 'timeFrame': 'At corrected age of 18 months', 'description': 'Incidence of disability. Disability defined as a physical or mental handicap, especially one that prevents a person from living a full, normal life or from holding a gainful job.'}, {'measure': 'Allele Frequency', 'timeFrame': "In 120 days after receipt of all the patients' sequencing data", 'description': 'Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in the population the investigators studied, expressed as a percentage.'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Birth Defect', 'Newborn; Fit', 'Genetic Diseases', 'Multiple Malformation', 'Congenital Malformation']}, 'descriptionModule': {'briefSummary': 'In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '28 Days', 'minimumAge': '1 Minute', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Neonates in one of the study hospitals', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Neonates in one of the study hospitals\n2. Abnormal laboratory testing or abnormal response to standard therapy suggestive of a genetic disease\n\nExclusion Criteria:\n\n1. Any infant whose genome has been shown to have large chromosomal aberration (Trisomy 13, 18, 21 or other)\n2. Any infant in which clinical considerations preclude drawing 1.0 ml of peripheral blood\n3. Parents refuse consent'}, 'identificationModule': {'nctId': 'NCT03984266', 'briefTitle': 'The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospital of Chongqing Medical University"}, 'officialTitle': 'The Pre-clinical Study of Genomic Sequencing for Birth Defects in Newborns', 'orgStudyIdInfo': {'id': 'CHCMU-CCMM-01'}}, 'armsInterventionsModule': {'interventions': [{'name': 'NGS panel', 'type': 'DIAGNOSTIC_TEST', 'description': 'A next-generation-sequencing panel, which contains a group of genes that specifically cause disease, for mutational analysis in newborns.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '400014', 'city': 'Chongqing', 'country': 'China', 'facility': "Children's Hospital of Chongqing Medical University", 'geoPoint': {'lat': 29.56026, 'lon': 106.55771}}], 'overallOfficials': [{'name': 'Lin Zou, Ph.D', 'role': 'STUDY_CHAIR', 'affiliation': "Children's Hospital of Chongqing Medical University"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'YES'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Children's Hospital of Chongqing Medical University", 'class': 'OTHER'}, 'collaborators': [{'name': "Northwest Women's and Children's Hospital, Xi'an, Shaanxi", 'class': 'OTHER'}, {'name': 'Maternal and Child Health Hospital of Hubei Province', 'class': 'OTHER'}, {'name': 'The First Hospital of Jilin University', 'class': 'OTHER'}, {'name': 'Xuzhou Maternity and Child Health Care Hospital', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Research assitant', 'investigatorFullName': 'Xia Yunqiu', 'investigatorAffiliation': "Children's Hospital of Chongqing Medical University"}}}}