Ignite Creation Date:
2025-12-24 @ 1:50 PM
Ignite Modification Date:
2025-12-24 @ 1:50 PM
Study NCT ID:
NCT06762795
Status:
RECRUITING
Last Update Posted:
2025-10-01
First Post:
2024-12-20
Is Possible Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
The HIEnome Study: Genome Sequencing for Perinatal HIE
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020925', 'term': 'Hypoxia-Ischemia, Brain'}], 'ancestors': [{'id': 'D002545', 'term': 'Brain Ischemia'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D002534', 'term': 'Hypoxia, Brain'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D000860', 'term': 'Hypoxia'}, {'id': 'D012818', 'term': 'Signs and Symptoms, Respiratory'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 25}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-05-15', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2027-06-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-25', 'studyFirstSubmitDate': '2024-12-20', 'studyFirstSubmitQcDate': '2025-01-06', 'lastUpdatePostDateStruct': {'date': '2025-10-01', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-01-08', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-03-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Diagnostic yield', 'timeFrame': '18 months', 'description': 'The primary outcome will be the number of cases with a pathogenic or likely-pathogenic variant associated with encephalopathy. This will further be stratified by the presence or absence of a perinatal hypoxic insult or sentinel event.'}], 'secondaryOutcomes': [{'measure': 'Genome versus exome sequencing', 'timeFrame': '18 months', 'description': 'A secondary outcome will be the incremental improvement in genome sequencing versus simulated exome testing. Diagnostic variants will be classified by their genomic location: exonic, intronic, or deep intronic. The rate of diagnostic findings in genomic locations that would be assayed by exome sequencing will be compared to the overall diagnostic rate (including variants in intronic regions that would not be detected on exome sequencing) to determine the incremental diagnostic benefit of genome sequencing over exome sequencing in this population.'}, {'measure': 'Indeterminate results', 'timeFrame': '18 months', 'description': 'A secondary outcome will be the identification rate of non-diagnostic / indeterminate results in genes linked to conditions with an overlapping neuromuscular or neurodevelopmental phenotype.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Hypoxic-ischemic encephalopathy', 'Genetic testing', 'Genome sequencing'], 'conditions': ['Hypoxic Ischemic Encephalopathy of Newborn', 'Hypoxic Ischemic Encephalopathy', 'Hypoxic Ischemic Encephalopathy (HIE)']}, 'descriptionModule': {'briefSummary': 'Perinatal hypoxic-ischemic encephalopathy is a rare severe condition in which neonates present with encephalopathy and a clinical history suggestive of prenatal or perinatal hypoxic-ischemic injury. Emerging evidence suggests that genetic conditions are frequently identified in cases of perinatal HIE; however, it is unclear which neonates with this diagnosis warrant genetic testing. This study will offer clinical genome sequencing to neonates with HIE who are undergoing total body cooling (therapeutic hypothermia) and their parents.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '1 Year', 'minimumAge': '0 Days', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Delivery ≥35w0d gestation\n* Diagnosed with moderate or severe HIE, or HIE with seizures\n* Undergoing total body cooling / therapeutic hypothermia\n* Able to provide blood or buccal samples during birth hospitalization\n* Admitted to Texas Children's Hospital Main, West, or Woodlands NICU\n\nExclusion Criteria:\n\n* Parents/family not willing to allow participation\n* Inability to collect sufficient neonatal blood samples (in some circumstances, a buccal swab may be used as backup)"}, 'identificationModule': {'nctId': 'NCT06762795', 'briefTitle': 'The HIEnome Study: Genome Sequencing for Perinatal HIE', 'organization': {'class': 'OTHER', 'fullName': 'Baylor College of Medicine'}, 'officialTitle': 'The HIEnome Study: Genome Sequencing for Perinatal HIE', 'orgStudyIdInfo': {'id': 'H-54168'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Perinatal HIE', 'description': "Newborns diagnosed with moderate or severe perinatal hypoxic-ischemic encephalopathy (HIE) who are undergoing therapeutic hypothermia will receive genome sequencing to identify co-morbid genetic conditions. Participants' genetic data will be analyzed for copy number variations (CNVs), single nucleotide variants (SNVs), and triplet repeat disorders per ACMG reporting standards.", 'interventionNames': ['Genetic: Genome sequencing']}], 'interventions': [{'name': 'Genome sequencing', 'type': 'GENETIC', 'description': 'Neonates enrolled in this study will undergo genome sequencing with parental controls as applicable.', 'armGroupLabels': ['Perinatal HIE']}]}, 'contactsLocationsModule': {'locations': [{'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Christian Parobek, MD, PhD', 'role': 'CONTACT', 'email': 'christian.parobek@bcm.edu', 'phone': '828-713-9962'}], 'facility': "Texas Children's Hospital", 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'facility': "Texas Children's Hospital", 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}], 'centralContacts': [{'name': 'Christian Parobek, MD, PhD', 'role': 'CONTACT', 'email': 'christian.parobek@bcm.edu', 'phone': '828-713-9962'}, {'name': 'Seema Lalani, MD', 'role': 'CONTACT', 'email': 'seemal@bcm.edu', 'phone': '7137988921'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Baylor College of Medicine', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Seema Lalani', 'investigatorAffiliation': 'Baylor College of Medicine'}}}}