Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
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|ClinicalTrials.gov Identifier: NCT01778543|
Recruitment Status : Recruiting
First Posted : January 29, 2013
Last Update Posted : May 27, 2022
- 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).
- To study the genes associated with uveal coloboma.
- Individuals at least 1 years of age who either have uveal coloboma or are an unaffected relative (such as a parent or sibling).
- 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.
|Condition or disease|
Objective: The objectives of this study are to: 1) define ocular, systemic and other associations in a cohort of well-phenotyped participants with microphthalmia, anophthalmia and/or uveal coloboma (MAC); 2) define risk factors and microforms of MAC in relatives of affected individuals; and 3) establish a repository of DNA and/or lymphoblastoid cell lines from participants for use in laboratory investigations.
Study Population: Six hundred (600) individuals of at least one year of age with documented MAC and their relatives will be enrolled.
Design: This is a natural history/genetic repository study. Six hundred (600) participants will be enrolled over fifteen 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 MAC. In particular, ocular and systemic associations will be defined in a cohort of well-phenotyped participants with MAC, as will the risk factors and microforms of these disorders in relatives of affected individuals.
|Study Type :||Observational|
|Estimated Enrollment :||600 participants|
|Official Title:||Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)|
|Actual Study Start Date :||January 8, 2013|
|Estimated Primary Completion Date :||December 27, 2027|
|Estimated Study Completion Date :||December 27, 2027|
Participants with Coloboma and their family members.
- The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. [ Time Frame: end of study ]The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01778543
|Contact: Daniel W Claus, R.N.||(301) email@example.com|
|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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Brian P Brooks, M.D.||National Eye Institute (NEI)|