Understanding genetic factors in children with eye defects
Official title: Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Run by Baylor College of Medicine · NCT06293560 · Data updated 2026-11-12
This study is trying to learn more about the genetic factors and physical traits in children with eye defects like Microphthalmia, Anophthalmia, and Coloboma to improve prevention and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 3000 (estimated) |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 1 site (Houston, Texas) |
| Status | Recruiting |
| Started | September 25, 2022 |
| Main results expected | September 2027 |
| Study ends | September 2027 |
| Registry record updated | May 6, 2026 |
| Trial ID | NCT06293560 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include children diagnosed with MAC, their parents, and siblings who can communicate in English or Spanish.
✕Probably not a fit
Patients who do not have MAC or do not meet the inclusion criteria will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to gather data on children diagnosed with Microphthalmia, Anophthalmia, and Coloboma (MAC) to better understand the physical characteristics and genetic mutations associated with these conditions. The research will utilize resources from the Texas Birth Defects Registry and collaborate with institutions like the National Institutes of Health to identify MAC cases and analyze genetic variants. The long-term goal is to enhance prevention and clinical management strategies for MAC by defining its phenotype and characterizing genetic susceptibility.
Why it matters
Potential benefit: If successful, this study could lead to improved prevention and management strategies for children affected by MAC.
How similar studies have gone: Other studies focusing on genetic epidemiology of congenital conditions have shown promise, suggesting potential for success in this approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. All MAC cases 2. Parents of the above children. 3. Siblings of the above children. 4. English or Spanish speaking. Exclusion Criteria: All subjects who do not meet the inclusion criteria listed above.
Where it's running
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Baylor College of Medicine
Houston, Texas, United States Recruiting
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.