Ignite Creation Date:
2025-12-25 @ 2:06 AM
Ignite Modification Date:
2025-12-26 @ 1:38 AM
Study NCT ID:
NCT06293560
Status:
RECRUITING
Last Update Posted:
2025-03-28
First Post:
2024-02-21
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008850', 'term': 'Microphthalmos'}, {'id': 'D003103', 'term': 'Coloboma'}, {'id': 'D000853', 'term': 'Anophthalmos'}], 'ancestors': [{'id': 'D005124', 'term': 'Eye Abnormalities'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 3000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2022-09-25', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-03', 'completionDateStruct': {'date': '2027-09', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-03-25', 'studyFirstSubmitDate': '2024-02-21', 'studyFirstSubmitQcDate': '2024-02-27', 'lastUpdatePostDateStruct': {'date': '2025-03-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-03-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-09', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Stage 1', 'timeFrame': 'End of study, on or before 12/31/2032', 'description': 'We are conducting interviews to collect detailed pregnancy, medical and family histories; review medical records to identify cases with chromosomal abnormalities or other syndromic diagnosis (that were not identified by the TBDR) and associated malformations, as well as to assess clinical course; and collect saliva samples that may be used to extract DNA to be analyzed for genetic mutations.'}, {'measure': 'Stage 2', 'timeFrame': 'End of study, on or before 12/31/2032', 'description': 'We are also conducting in-person, virtual, or remote physical assessments to obtain detailed phenotypic information including three-dimensional (3D) digital imaging to capture facial phenotype of cases and their parents. We also collect blood samples during this stage.'}, {'measure': 'Stage 3', 'timeFrame': 'End of study, on or before 12/31/2032', 'description': 'We are working closely with collaborators at the NIH Clinical Center to conduct deep phenotyping of children with MAC, who do not have a diagnosed syndrome, as well as their first-degree family members. This may include complete eye examinations, neuropsychological testing, hearing evaluation, additional facial imaging, echocardiograms, and magnetic resonance imaging (MRI) of the brain.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Microphthalmia', 'Coloboma', 'Anophthalmia']}, 'referencesModule': {'references': [{'pmid': '35218607', 'type': 'BACKGROUND', 'citation': 'Langlois PH, Marengo L, Lupo PJ, Drummond-Borg M, Agopian AJ, Nembhard WN, Canfield MA. Evaluating the proportion of isolated cases among a spectrum of birth defects in a population-based registry. Birth Defects Res. 2023 Jan 1;115(1):21-25. doi: 10.1002/bdr2.1990. Epub 2022 Feb 26.'}, {'pmid': '34979194', 'type': 'BACKGROUND', 'citation': 'Selzer EB, Blain D, Hufnagel RB, Lupo PJ, Mitchell LE, Brooks BP. Review of evidence for environmental causes of uveal coloboma. Surv Ophthalmol. 2022 Jul-Aug;67(4):1031-1047. doi: 10.1016/j.survophthal.2021.12.008. Epub 2021 Dec 31.'}, {'pmid': '33345678', 'type': 'BACKGROUND', 'citation': 'Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, Northrup H, Langlois PH, Canfield MA, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Swartz MD, Mitchell LE, Agopian AJ, Lupo PJ. A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 Oct;28(5):428-435. doi: 10.1080/09286586.2020.1862244. Epub 2020 Dec 20.'}]}, 'descriptionModule': {'briefSummary': 'The investigators are inviting families to take part in a research study that will help us better understand the physical characteristics associated with children who have Microphthalmia, Anophthalmia, and Coloboma (MAC) and how changes in their DNA sequence, called genetic mutations, play a role in the risk of developing MAC', 'detailedDescription': "This study is focused on gathering data on individuals diagnosed with some of the more common visually threatening congenital eye defects collectively referred to as MAC complex; anophthalmia (total absence of the globe), microphthalmia (anomalously small eye in the orbit), and coloboma (failure of the closure of the fetal fissure).\n\nOur long-term goal is to improve prevention efforts for and clinical management of MAC. The objectives of the current study are to 1) better define the MAC phenotype and 2) characterize the role of known and newly identified pathogenic genetic variants that confer MAC susceptibility.\n\nTo do this, the investigators are leveraging resources to identify MAC cases through the Texas Birth Defects Registry (TBDR), Texas Children's Hospital (TCH), and through direct referrals from our study partners. The investigators intend to conduct secondary analyses by leveraging the existing collaborative relationship with the New York State Newborn Screening Program (NYSNSP). Also, the investigators are utilizing the resources of the National Institutes of Health (NIH) Clinical Center to comprehensively phenotype cases with MAC, and the National Eye Institute (NEI) Ophthalmic Genomics Laboratory to identify genetic variants underlying MAC phenotypes."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Children diagnosed with congenital microphthalmia, anophthalmia, or coloboma (without a recognized syndrome).', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. All MAC cases\n2. Parents of the above children.\n3. Siblings of the above children.\n4. English or Spanish speaking.\n\nExclusion Criteria:\n\nAll subjects who do not meet the inclusion criteria listed above.'}, 'identificationModule': {'nctId': 'NCT06293560', 'acronym': 'MAGIC', 'briefTitle': 'Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children', 'organization': {'class': 'OTHER', 'fullName': 'Baylor College of Medicine'}, 'officialTitle': 'Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children', 'orgStudyIdInfo': {'id': 'H-49046'}, 'secondaryIdInfos': [{'id': '5U01EY032403-03', 'link': 'https://reporter.nih.gov/quickSearch/5U01EY032403-03', 'type': 'NIH'}]}, 'contactsLocationsModule': {'locations': [{'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'EpiCenter', 'role': 'CONTACT', 'email': 'epicenter@bcm.edu', 'phone': '713-798-2920'}, {'name': 'Philip Lupo, PhD, MPH', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Baylor College of Medicine', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Baylor College of Medicine', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Eye Institute (NEI)', 'class': 'NIH'}, {'name': 'National Institutes of Health (NIH)', 'class': 'NIH'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator, Professor of Pediatrics; Director, Epidemiology and Population Sciences Program', 'investigatorFullName': 'Philip J Lupo', 'investigatorAffiliation': 'Baylor College of Medicine'}}}}