Genetics of Uveal Coloboma
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Purpose
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 and cheek swab or saliva samples for genetic testing.
| Condition |
|---|
|
Colobama |
| Study Type: | Observational |
| Study Design: | Time Perspective: Prospective |
| Official Title: | Genetics of Uveal Coloboma |
- The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. [ Time Frame: 3 years and end of study ]
| Estimated Enrollment: | 240 |
| Study Start Date: | December 2012 |
| Estimated Study Completion Date: | December 2016 |
| Estimated Primary Completion Date: | December 2016 (Final data collection date for primary outcome measure) |
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 or buccal cell 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.
Eligibility| Ages Eligible for Study: | 1 Year and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
- 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.
The participant must be able to provide a blood or saliva sample.
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.
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).
Contacts and Locations| Contact: Delphine Blain, M.D. | (301) 496-1410 | dblain@mail.nih.gov |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov | |
| Principal Investigator: | Brian P Brooks, M.D. | National Eye Institute (NEI) |
More Information
Additional Information:
Publications:
| Responsible Party: | National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ) |
| ClinicalTrials.gov Identifier: | NCT01778543 History of Changes |
| Other Study ID Numbers: | 130049, 13-EI-0049 |
| Study First Received: | January 26, 2013 |
| Last Updated: | May 1, 2013 |
| Health Authority: | United States: Federal Government |
Keywords provided by National Institutes of Health Clinical Center (CC):
|
Coloboma |
Additional relevant MeSH terms:
|
Coloboma Eye Abnormalities Eye Diseases Congenital Abnormalities |
ClinicalTrials.gov processed this record on June 18, 2013