Understanding the genetics of eye development disorders
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
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 |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 1 Year to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT01778543 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals aged one year or older with a diagnosis of MAC or their unaffected relatives.
Not a fit: Patients who are pregnant or those without a diagnosis of MAC or an unaffected relative may not benefit from this study.
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 performed: While studies on genetic factors in eye disorders exist, this specific approach focusing on MAC is relatively novel and may provide new insights.
Eligibility criteria
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 legal parent/guardian/representative 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 legal parent/guardian/representative 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 this trial is running
Bethesda, Maryland
- 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
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.