Status:
TERMINATED
Family Studies of Uveal Coloboma
Lead Sponsor:
National Eye Institute (NEI)
Conditions:
Coloboma
Eligibility:
All Genders
Up to 100 years
Brief Summary
This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the ...
Detailed Description
Objective: To describe phenotypes and find genes causing a developmental and potentially blinding eye condition, uveal coloboma. Study population: Families where more than one family member has uveal...
Eligibility Criteria
Inclusion
- This study will enroll 120 adult and children members of families where more than one individual is reported to have coloboma. Affected and unaffected family members will be both enrolled.
- INCLUSION CRITERIA:
- The participant must have any recognizeable form of inherited coloboma.
- The participant must be a genetically informative member of a family where more than one person is affected by typical uveal coloboma.
- The participant must be able to comply with the protocol and provide a blood sample.
- EXCLUSION CRITERIA:
- 1\. The participant has any syndromic form of coloboma likely due to mutations in a known gene.
Exclusion
Key Trial Info
Start Date :
July 28 2006
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
April 15 2013
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT00368004
Start Date
July 28 2006
End Date
April 15 2013
Last Update
December 17 2019
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892