Recruiting

Observational Study

Sponsor:

National Eye Institute (NEI)

Code:

NCT01778543

Conditions

Coloboma

Anophthalmia

Microphthalmia

Eligibility Criteria

Sex: All

Age: 1 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

Background:

\- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings).

Objectives:

\- To study the genes associated with MAC.

Eligibility:

\- Individuals at least 1 years of age who either have MAC or are an unaffected relative (such as a parent or sibling).

Design:

  • Participants will have a physical exam and medical history. They will also have a full eye exam.
  • Participants with MAC may have other exams, such as imaging studies and hearing assessments.
  • All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.

Conditions

Coloboma

Anophthalmia

Microphthalmia

Study ID

NCT01778543

Start date

Jan 8, 2013

Status verified date

Aug 18, 2026

Primary completion date

Dec 27, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 1 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Arms

MAC

Participants with MAC and their family members.

Primary outcome measure

  • The tests, data, and samples collected will be analyzed to better understand the genetics of MAC. [ Time Frame: end of study ]

Central Contacts and Locations

Central contacts

Daniel W Claus, R.N.

(301) 451-1621daniel.claus@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

More Information

Sponsor

National Eye Institute (NEI)

Last update posted

Sep 8, 2026

Last verified

Aug 18, 2026

Keywords

  • Repository
  • Natural History
  • Genetics

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Eye Institute (NEI) on 2026-09-08.