Ignite Creation Date:
2025-12-24 @ 3:15 PM
Ignite Modification Date:
2026-01-29 @ 2:36 AM
Study NCT ID:
NCT03175692
Status:
UNKNOWN
Last Update Posted:
2017-06-16
First Post:
2017-05-23
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D000208', 'term': 'Acute Disease'}], 'ancestors': [{'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D059472', 'term': 'Exome'}], 'ancestors': [{'id': 'D016678', 'term': 'Genome'}, {'id': 'D040342', 'term': 'Genetic Structures'}, {'id': 'D055614', 'term': 'Genetic Phenomena'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Use blood or DBS to extract DNA'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 150}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2017-06-14', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-05', 'completionDateStruct': {'date': '2020-05', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2017-06-15', 'studyFirstSubmitDate': '2017-05-23', 'studyFirstSubmitQcDate': '2017-06-01', 'lastUpdatePostDateStruct': {'date': '2017-06-16', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-06-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2018-05', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Sensitivity of whole exome sequencing in detecting causative mutations', 'timeFrame': '10 weeks'}], 'secondaryOutcomes': [{'measure': 'Time frame of mutation identified after receipt of the sample', 'timeFrame': '10 weeks'}, {'measure': 'Percentage of mutation identified within 7 days after receipt of the sample', 'timeFrame': '10 weeks'}, {'measure': 'Changes in healthcare decision after disclosure of the result', 'timeFrame': '6 months'}, {'measure': "Parents/family's attitude about exome sequencing", 'timeFrame': '6 months'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Congenital Metabolic Disorder', 'Acute Disease']}, 'descriptionModule': {'briefSummary': 'Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '1 Day', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Children and newborn patients at National Taiwan University Hospital', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Pediatric patients admitted to intensive care unit\n* Infants with abnormal newborn screening result that is medical emergency\n\nExclusion Criteria:\n\n* Participants or parents who cannot comply with study'}, 'identificationModule': {'nctId': 'NCT03175692', 'briefTitle': 'Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children', 'organization': {'class': 'OTHER', 'fullName': 'National Taiwan University Hospital'}, 'officialTitle': 'Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children', 'orgStudyIdInfo': {'id': '201703073RINB'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'critical illness in infants and children', 'description': 'Those infants and children who has congenital metabolism disorder or acute disorder.', 'interventionNames': ['Diagnostic Test: Whole Exome Sequencing']}], 'interventions': [{'name': 'Whole Exome Sequencing', 'type': 'DIAGNOSTIC_TEST', 'description': "Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.", 'armGroupLabels': ['critical illness in infants and children']}]}, 'contactsLocationsModule': {'locations': [{'zip': '100', 'city': 'Taipei', 'country': 'Taiwan', 'facility': 'National Taiwan University Hospital', 'geoPoint': {'lat': 25.05306, 'lon': 121.52639}}], 'overallOfficials': [{'name': 'Wuh-Liang Hwu', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Department of Pediatrics and Medical Genetics, National Taiwan University Hospital'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Taiwan University Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'Ministry of Science and Technology, Taiwan', 'class': 'OTHER_GOV'}], 'responsibleParty': {'type': 'SPONSOR'}}}}