Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
NCT ID: NCT06293560
Last Updated: 2025-03-28
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
3000 participants
OBSERVATIONAL
2022-09-25
2027-09-30
Brief Summary
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Detailed Description
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Our 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.
To 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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
2. Parents of the above children.
3. Siblings of the above children.
4. English or Spanish speaking.
ALL
Yes
Sponsors
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National Eye Institute (NEI)
NIH
National Institutes of Health (NIH)
NIH
Baylor College of Medicine
OTHER
Responsible Party
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Philip J Lupo
Principal Investigator, Professor of Pediatrics; Director, Epidemiology and Population Sciences Program
Locations
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Baylor College of Medicine
Houston, Texas, United States
Countries
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Facility Contacts
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References
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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.
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.
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.
Other Identifiers
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H-49046
Identifier Type: -
Identifier Source: org_study_id
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