Genetics of Uveal Coloboma
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | 1 - Any |
| Updated: | 4/5/2019 |
| Start Date: | January 26, 2013 |
| End Date: | December 3, 2019 |
| Contact: | Daniel W Claus, R.N. |
| Email: | daniel.claus@nih.gov |
| Phone: | (301) 496-9058 |
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.
- 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.
Objective:
The objectives of this study are to 1) define ocular and systemic associations in a cohort of
well-phenotyped participants with uveal coloboma, 2) define risk factors and microforms of
coloboma in relatives of affected individuals and 3) establish a repository of DNA and/or
lymphoblastoid cell lines from participants with uveal coloboma and their relatives for use
in laboratory investigations.
Study Population:
Two hundred and forty (240) individuals of at least one year of age with documented uveal
coloboma and their relatives will be enrolled.
Design:
This is a natural history/genetic repository study. Two hundred and forty (240) participants
will be enrolled over four years. Participants will undergo a complete age-appropriate
baseline eye examination and physical examination and provide a blood, buccal cell/saliva, or
DNA sample.
Outcome Measures:
The tests, data, and samples collected will be analyzed to better understand the genetics of
uveal coloboma. In particular, ocular and systemic associations will be defined in a cohort
of well-phenotyped participants with uveal coloboma, as will the risk factors and microforms
of coloboma in relatives of affected individuals.
The objectives of this study are to 1) define ocular and systemic associations in a cohort of
well-phenotyped participants with uveal coloboma, 2) define risk factors and microforms of
coloboma in relatives of affected individuals and 3) establish a repository of DNA and/or
lymphoblastoid cell lines from participants with uveal coloboma and their relatives for use
in laboratory investigations.
Study Population:
Two hundred and forty (240) individuals of at least one year of age with documented uveal
coloboma and their relatives will be enrolled.
Design:
This is a natural history/genetic repository study. Two hundred and forty (240) participants
will be enrolled over four years. Participants will undergo a complete age-appropriate
baseline eye examination and physical examination and provide a blood, buccal cell/saliva, or
DNA sample.
Outcome Measures:
The tests, data, and samples collected will be analyzed to better understand the genetics of
uveal coloboma. In particular, ocular and systemic associations will be defined in a cohort
of well-phenotyped participants with uveal coloboma, as will the risk factors and microforms
of coloboma in relatives of affected individuals.
- 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.
3. The participant must be able to provide a blood or buccal/saliva sample.
4. The participant must be able to understand and sign this protocol s informed
consent form OR have a legal parent/guardian with the ability to do the same.
5. The participant must either:
- be affected by uveal coloboma OR
- be an asymptomatic relative of an affected individual.
Participants will be considered to be affected by uveal coloboma if they have a clear
ocular phenotype related to uveal coloboma or if they are deemed affected by other clinical
evaluations (e.g., the presence of a unique, systemic manifestation cosegregating with
coloboma, 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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