Ignite Creation Date:
2025-12-24 @ 7:34 PM
Ignite Modification Date:
2025-12-27 @ 2:24 AM
Study NCT ID:
NCT04528303
Status:
RECRUITING
Last Update Posted:
2025-09-05
First Post:
2020-08-24
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003968', 'term': 'Diarrhea, Infantile'}, {'id': 'D007410', 'term': 'Intestinal Diseases'}], 'ancestors': [{'id': 'D003967', 'term': 'Diarrhea'}, {'id': 'D012817', 'term': 'Signs and Symptoms, Digestive'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D005767', 'term': 'Gastrointestinal Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D000073336', 'term': 'Whole Genome Sequencing'}, {'id': 'D000073359', 'term': 'Exome Sequencing'}], 'ancestors': [{'id': 'D017422', 'term': 'Sequence Analysis, DNA'}, {'id': 'D017421', 'term': 'Sequence Analysis'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'RANDOMIZED', 'maskingInfo': {'masking': 'DOUBLE', 'whoMasked': ['PARTICIPANT', 'OUTCOMES_ASSESSOR']}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 180}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2024-05-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-03', 'studyFirstSubmitDate': '2020-08-24', 'studyFirstSubmitQcDate': '2020-08-24', 'lastUpdatePostDateStruct': {'date': '2025-09-05', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2020-08-27', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Diagnostic rates between WGS and WES', 'timeFrame': 'Within approximately 60 days of enrollment', 'description': 'Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.'}], 'secondaryOutcomes': [{'measure': 'Number of patients receiving precision medicine guided by sequencing results', 'timeFrame': 'Within approximately 60 days of enrollment', 'description': 'Rate of application of precision medicine suggested by the results of WGS or WES.'}, {'measure': 'Mortality of patients', 'timeFrame': 'Within approximately 1 year of enrollment', 'description': 'Mortality of patients after WGS and WES'}, {'measure': 'Rate of parental satisfaction with sequencing', 'timeFrame': 'Within one week of patient enrollment', 'description': 'Parental satisfaction with decision to pursue sequencing based on questionnaire survey'}, {'measure': 'Number of parents who are available for trio sequencing', 'timeFrame': 'Within one week of patient enrollment', 'description': 'Number of subjects in which both parents are available for trio sequencing'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Diarrhea, Infantile', 'Enteropathy']}, 'descriptionModule': {'briefSummary': 'This study will seek to determine if whole genome sequencing (WGS) improves diagnostic rates, and outcomes for congenital diarrhea and enteropathy (CODE) patients. The investigator will enroll 180 patients in a randomized controlled study to either WGS or whole exome sequencing (WES). This study is designed to evaluate whether CODE patients would benefit from WGS guided precision medicine.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '6 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with chronic diarrhea lasting greater than 2 months\n* Patients with consent from parents or legal guardians\n* Biological relative of a patient enrolled in this study.\n\nExclusion Criteria:\n\n* Chronic diarrhea caused by specific infections, i.e. CMV, Clostridioides difficile\n* Chronic diarrhea with necrotizing enterocolitis, short bowel syndrome\n* Functional diarrhea\n* Patients with previously confirmed monogenic diarrhea\n* Patients with poor compliance'}, 'identificationModule': {'nctId': 'NCT04528303', 'briefTitle': 'Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospital of Fudan University"}, 'officialTitle': 'A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)', 'orgStudyIdInfo': {'id': 'WGS_CODE_01'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Whole genome sequencing', 'interventionNames': ['Genetic: Whole genome sequencing']}, {'type': 'ACTIVE_COMPARATOR', 'label': 'Whole exome sequencing', 'interventionNames': ['Genetic: Whole exome sequencing']}], 'interventions': [{'name': 'Whole genome sequencing', 'type': 'GENETIC', 'description': 'Genomic sequencing and molecular diagnostic results', 'armGroupLabels': ['Whole genome sequencing']}, {'name': 'Whole exome sequencing', 'type': 'GENETIC', 'description': 'Genomic sequencing and molecular diagnostic results', 'armGroupLabels': ['Whole exome sequencing']}]}, 'contactsLocationsModule': {'locations': [{'zip': '201102', 'city': 'Shanghai', 'state': 'Shanghai Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Ying Huang', 'role': 'CONTACT', 'email': 'yhuang815@163.com', 'phone': '02164931727'}], 'facility': 'Ying Huang', 'geoPoint': {'lat': 31.22222, 'lon': 121.45806}}], 'centralContacts': [{'name': 'Ying Huang, MD, PhD', 'role': 'CONTACT', 'email': 'yhuang815@163.com', 'phone': '+862164931727'}, {'name': 'Lin Wang, MD,PhD', 'role': 'CONTACT', 'email': 'wanglin546974055@163.com', 'phone': '13817510412'}], 'overallOfficials': [{'name': 'Ying Huang, MD,PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Children's Hospital of Fudan University"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Children's Hospital of Fudan University", 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}