Status:
COMPLETED
Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia
Lead Sponsor:
National Eye Institute (NEI)
Conditions:
Aniridia
Eligibility:
All Genders
4+ years
Brief Summary
This study will examine specific gene changes in patients with aniridia, a disease in which the iris (colored part of the eye) is absent or partially absent, and will correlate the changes with clinic...
Detailed Description
This project, Phenotype-Genotype Correlation in aniridia, will study the specific mutations in patients with aniridia and attempt to make a phenotype-genotype correlation. Specifically, the study will...
Eligibility Criteria
Inclusion
- Patients that meet diagnostic criteria for aniridia will be recruited from the NEI and Collaborating clinics. While diagnosis of aniridia is not expected to create significant difficulty, every attempt will be made to document the clinical status of each family member included in the study, and to document the clinical syndrome in at least one affected individual by slit lamp photography. A total of 100 subjects will be recruited for this study. There are no specific exclusion criteria other than young age (less than 4 years old) which may pose difficulty in obtaining blood.
Exclusion
Key Trial Info
Start Date :
December 7 2005
Trial Type :
OBSERVATIONAL
End Date :
October 3 2008
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT00265590
Start Date
December 7 2005
End Date
October 3 2008
Last Update
July 2 2017
Active Locations (3)
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1
University of Chicago
Chicago, Illinois, United States, 60637
2
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
3
University of Cincinnati
Cincinnati, Ohio, United States, 45267