Ignite Creation Date:
2025-12-24 @ 4:40 PM
Ignite Modification Date:
2025-12-26 @ 4:44 AM
Study NCT ID:
NCT07102966
Status:
RECRUITING
Last Update Posted:
2025-09-08
First Post:
2025-07-29
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2024-12-05', 'size': 576015, 'label': 'Study Protocol', 'hasIcf': False, 'hasSap': False, 'filename': 'Prot_000.pdf', 'typeAbbrev': 'Prot', 'uploadDate': '2025-07-28T21:46', 'hasProtocol': True}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 410}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-09-20', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2029-07-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-02', 'studyFirstSubmitDate': '2025-07-29', 'studyFirstSubmitQcDate': '2025-07-29', 'lastUpdatePostDateStruct': {'date': '2025-09-08', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-08-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2029-03-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Effectiveness of Consultagene', 'timeFrame': 'From enrollment to the end of treatment-4 years', 'description': 'The primary outcome will be effectiveness of Consultagene, defined as difference in diagnostic yield compared to usual care.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Rapid whole genome sequencing, newborns, Texas'], 'conditions': ['Rare Diseases']}, 'referencesModule': {'references': [{'pmid': '39251895', 'type': 'BACKGROUND', 'citation': 'Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Garcia N, Berry L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas. J Neurodev Disord. 2024 Sep 9;16(1):52. doi: 10.1186/s11689-024-09560-x.'}]}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering feedback from healthcare providers. Researchers will provide rapid whole genome sequencing (WGS) to 200 infants over a period of 5 years. Data will be collected via Consultagene, surveys, and qualitative interviews.', 'detailedDescription': 'The study will use advanced testing such as WGS and RNA sequencing to look for possible diagnoses in infants. Only newborns with an unknown genetic diagnosis and admitted to a NICU in select Texas hospitals will be included. The researchers have executed broad reliance agreements with the participating NICUs in the study. Baylor IRB will serve as the IRB of record for all participating sites. All referrals will be received through Consultagene (www.consultagene.org).\n\nBaylor College of Medicine (BCM) will conduct virtual genetic evaluations using video visits, with help from the local hospital team. Photos and medical records will be reviewed, and blood or buccal swabs will be collected from the infants and parents. Test results will be returned in about a week, and researchers will provide genetic counseling to families through another virtual visit. If needed, additional testing will be done. Families will be connected to support groups, treatment options, and clinical trials if available.\n\nTo understand the impact of the study, families will be asked to complete two short surveys; one at the beginning and one after they receive results. Doctors who use Consultagene will also be surveyed and interviewed to learn about their experience and gather feedback for improving the virtual tool.\n\nAll data will be kept private and secure. DNA samples collected will be stored at BCM for future research, but without any identifying information. Samples may also be shared with other researchers studying similar health conditions, but only under strict guidelines.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '90 Days', 'minimumAge': '1 Day', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Undiagnosed infants from 0-90 days of age, with a diverse group of phenotypes and strongly suspected to have genetic disorders.\n\nExclusion Criteria:\n\n* (1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating an inborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence of other congenital anomalies; (7) isolated birth defects such as myelomeningocele, cleft lip/palate, cardiac septal defects, isolated congenital diaphragmatic hernia, etc.; (8) birth defects due to known teratogens i.e., alcohol, Isotretinoin, etc.; (9) multiple congenital anomalies associated with maternal diabetes; (10) VACTERL association; and (11) hemodynamically unstable newborns needing transport for higher level of care.'}, 'identificationModule': {'nctId': 'NCT07102966', 'acronym': 'MAGNET', 'briefTitle': 'Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas', 'organization': {'class': 'OTHER', 'fullName': 'Baylor College of Medicine'}, 'officialTitle': 'MAGNET: Making Genomics Accessible For Newborns In Texas', 'orgStudyIdInfo': {'id': 'H-56296'}, 'secondaryIdInfos': [{'id': '1R01HG013428-01A1', 'link': 'https://reporter.nih.gov/quickSearch/1R01HG013428-01A1', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'MAGNET study patients', 'description': 'Patients receiving rapid whole genome sequencing', 'interventionNames': ['Genetic: Rapid whole genome sequencing']}], 'interventions': [{'name': 'Rapid whole genome sequencing', 'type': 'GENETIC', 'description': 'All consented patients will receive a virtual genetic evaluation and rapid whole genome sequencing', 'armGroupLabels': ['MAGNET study patients']}]}, 'contactsLocationsModule': {'locations': [{'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Seema Lalani, MD', 'role': 'CONTACT', 'email': 'seemal@bcm.edu', 'phone': '281-224-0600'}], 'facility': 'Baylor College of Medicine', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}], 'centralContacts': [{'name': 'Seema R Lalani, MD', 'role': 'CONTACT', 'email': 'seemal@bcm.edu', 'phone': '281-224-0600'}, {'name': 'Stacey Pereira, PhD', 'role': 'CONTACT', 'email': 'spereira@bcm.edu'}], 'overallOfficials': [{'name': 'Brendan Lee, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Baylor College of Medicine'}]}, 'ipdSharingStatementModule': {'infoTypes': ['STUDY_PROTOCOL', 'ICF'], 'timeFrame': 'Unending (Beginning 1 year after publication with no end date)', 'ipdSharing': 'YES'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Baylor College of Medicine', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Human Genome Research Institute (NHGRI)', 'class': 'NIH'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Seema Lalani', 'investigatorAffiliation': 'Baylor College of Medicine'}}}}