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Protocol Details

Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

13-EI-0049

Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 Years
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Genetics;
Repository;
Advanced Retinal Disease;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Coloboma

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Eye Institute

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. Several genes have been linked to coloboma, but the cause of most cases is hard to find. Researchers want to study the genes of people who have coloboma and genes from their close, unaffected relatives (such as parents and siblings).

Objectives:

- To study the genes associated with uveal coloboma.

Eligibility:

- Individuals at least 1 years of age who either have uveal coloboma 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 uveal coloboma 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.

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Eligibility

INCLUSION CRITERIA:

1. The participant must be one year of age or older.

2. 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.

3. The participant must be able to provide a blood, buccal/saliva or DNA sample.

4. 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.

5. 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 cosegregating with MAC, or a rare or unique kidney finding).

EXCLUSION CRITERIA:

Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Brian P. Brooks, M.D.
National Eye Institute (NEI)



Daniel W. Claus, R.N.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10D45
10 Center Drive
Bethesda, Maryland 20892
(301) 451-1621
daniel.claus@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT01778543

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