Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT01778543 |
| Other study ID # |
130049 |
| Secondary ID |
13-EI-0049 |
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
January 8, 2013 |
Study information
| Verified date |
February 23, 2024 |
| Source |
National Institutes of Health Clinical Center (CC) |
| Contact |
Daniel W Claus, R.N. |
| Phone |
(301) 451-1621 |
| Email |
daniel.claus[@]nih.gov |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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. 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.
Description:
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. A subset of approximately 100 participants who are
eligible and interested will be referred to enroll in this study from the Microphthalmia,
Anophthalmia, and Coloboma Genetic Epidemiology in Children (MAGIC Study) at Baylor College
of Medicine (Baylor Protocol # H-49046).
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.
