Understanding the genetics of eye development disorders
Official title: Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
Run by National Institutes of Health Clinical Center (CC) · NCT01778543 · Data updated 2026-11-12
This study is trying to find out how genetics play a role in eye development disorders like microphthalmia, anophthalmia, and uveal coloboma by looking at people with these conditions and their family members.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Year to 100 Years |
| Sex | All |
| Enrollment | 600 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | January 8, 2013 |
| Main results expected | December 27, 2027 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT01778543 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals aged one year or older with a diagnosis of MAC or their unaffected relatives.
✕Probably not a fit
Patients who are pregnant or those without a diagnosis of MAC or an unaffected relative may 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 investigate the genetic factors associated with microphthalmia, anophthalmia, and uveal coloboma, collectively referred to as MAC. Researchers will enroll 600 participants, including individuals with MAC and their unaffected relatives, to conduct comprehensive eye examinations and collect genetic samples. The study will analyze these samples to identify genetic links and risk factors related to MAC, contributing to a better understanding of these conditions. The findings may help establish a genetic repository for future research.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of developmental eye disorders, potentially benefiting affected individuals and their families.
How similar studies have gone: While studies on genetic factors in eye disorders exist, this specific approach focusing on MAC is relatively novel and may provide new insights.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA:
* The participant must be one year of age or older.
* The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report.
* The participant must be able to provide a blood, buccal/saliva, or DNA sample.
* The participant must be able to understand and sign this protocol s informed consent form OR have a legally authorized representative (LAR) with the ability to do the same.
* The participant must either:
* a. be affected by MAC(i) OR
* b. be an asymptomatic relative of an affected individual.
(i) Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation co-segregating with MAC, or a rare or unique kidney finding).
EXCLUSION CRITERIA:
* Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and/or a LAR may reach out regarding participation in the study.
* Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study; however, non-NEI NIH employees may enroll in the study.
Where it's running
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Brian P Brooks, M.D. — National Eye Institute (NEI)
- Study coordinator: Daniel W Claus, R.N.
- Email: daniel.claus@nih.gov
- Phone: (301) 451-1621
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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.