Evaluating the proportion of isolated cases among a spectrum of birth defects in a population-based registry.
Peter H Langlois, Lisa Marengo, Philip J Lupo...
https://pubmed.ncbi.nlm.nih.gov/35218607Actively Recruiting
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ID06293560
Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Led by Baylor College of Medicine · Updated on 2026-05-06
3000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
B
Baylor College of Medicine
Lead Sponsor
N
National Eye Institute (NEI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying children diagnosed with Microphthalmia, Anophthalmia, and Coloboma (MAC), which are congenital eye defects affecting eye size and structure. The study aims to understand the physical traits of these conditions and how genetic changes contribute to the risk of developing MAC. The overall goal is to improve prevention and clinical care for affected children. Participants include children diagnosed with MAC, their parents, and siblings. The study collects detailed physical and genetic information by collaborating with various registries and hospitals. Researchers use resources from newborn screening programs and specialized NIH centers to identify and analyze genetic variants linked to MAC. Families involved in the study will provide data through medical evaluations and genetic testing. The research team will review physical characteristics and genetic information to better define MAC and its genetic causes. This observational study is ongoing, and participants may be followed until the study ends in 2032, with no interventions or treatments required.
CONDITIONS
Brief Title
Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Who Can Participate
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Diagnosed with Microphthalmia, Anophthalmia, or Coloboma (MAC)
- Parent of a child diagnosed with MAC
- Sibling of a child diagnosed with MAC
- Able to speak English or Spanish
You will not qualify if you...
- Not meeting any of the above inclusion criteria
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Diagnostic Evaluation
Duration - Varies based on individual assessment
Participants undergo comprehensive phenotyping and genetic testing to better define the MAC phenotype and identify genetic variants.
1 to 2 visits depending on individual assessment
Long-term Monitoring
Duration - Up to 5 years
Participants are followed over time to gather data on the clinical progression and genetics of MAC.
Periodic visits during the study period depending on participant availability and study needs
Trial Site Locations
Total: 1 location
1
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
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How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
Review of evidence for environmental causes of uveal coloboma.
Evan B Selzer, Delphine Blain, Robert B Hufnagel...
https://pubmed.ncbi.nlm.nih.gov/34979194A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.
Jeremy M Schraw, Renata H Benjamin, Daryl A Scott...
https://pubmed.ncbi.nlm.nih.gov/33345678