Understanding genetic factors in children with eye defects
Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
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 |
|---|---|
| Enrollment | 3000 (estimated) |
| Sex | All |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 1 site (Houston, Texas) |
| Trial ID | NCT06293560 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include children diagnosed with MAC, their parents, and siblings who can communicate in English or Spanish.
Not a fit: Patients who do not have MAC or do not meet the inclusion criteria will not benefit from this study.
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 performed: Other studies focusing on genetic epidemiology of congenital conditions have shown promise, suggesting potential for success in this approach.
Eligibility criteria
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 this trial is running
Houston, Texas
- Baylor College of Medicine — Houston, Texas, United States (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.