Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children

NCT06293560 | Recruiting

• 2 other identifiers: H-490465U01EY032403-03
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Anophthalmia; Microphthalmia; Coloboma

Outcome Measures

Primary Outcomes (3)

• Stage 1

  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.

  End of study, on or before 12/31/2032

• Stage 2

  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.

  End of study, on or before 12/31/2032

• Stage 3

  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.

  End of study, on or before 12/31/2032

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Children diagnosed with congenital microphthalmia, anophthalmia, or coloboma (without a recognized syndrome).

You may qualify if:

• All MAC cases
• Parents of the above children.
• Siblings of the above children.
• English or Spanish speaking.

Sponsors & Collaborators

• Baylor College of Medicine: lead
• National Eye Institute (NEI): collaborator
• National Institutes of Health (NIH): collaborator

Study Sites (1)

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Related Publications (3)

• 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: 35218607 BACKGROUND

• 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: 34979194 BACKGROUND

• 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.

  PMID: 33345678 BACKGROUND

MeSH Terms

Conditions

Microphthalmos; Coloboma; Anophthalmos

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases, Hereditary

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator, Professor of Pediatrics; Director, Epidemiology and Population Sciences Program

Study Record Dates

• First Submitted: February 21, 2024
• First Posted: March 5, 2024
• Study Start: September 25, 2022
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): September 1, 2027
• Last Updated: May 6, 2026

Record last verified: 2026-04

Locations

US (1)