NEI Intramural Biorepository for Retinal Diseases (12-EI-0042)

National Eye Institute

Investigators

Linked publications & trials

Abstract

This study establishes a clinical database and biospecimen repository for identification of novel factors relevant to the pathogenesis, progression, and response to treatment of a variety of retinal conditions, particularly age-related macular degeneration and diabetic retinopathy, and their associated systemic correlates of disease. Objectives: This study provides for standardized collection of longitudinal clinical data and for serial collection, processing, and storage of a variety of biospecimens. The clinical data set and biospecimen repository will be used for identification of novel genetic factors, biomarkers, and experimental models associated with pathogenesis, progression, and response to treatment for various conditions of the retina and their associated systemic correlates of disease. Study Population: We plan accrual of 500 participants with age-related macular degeneration (AMD), 300 participants with diabetic retinopathy, up to 1,000 participants with other retinal diseases, and 500 participants without any retinal disease. Design: This is a prospective observational study of multiple retinal diseases and suitable controls incorporating: 1. Standard of care management of eye diseases with a standardized follow-up and testing schedule; and 2. Collection of biospecimens for research purposes for which sampling does not incur more than minimal risk to participants. Outcome Measures: Interaction of key parameters of phenotype (such as visual acuity and retinal features on ocular imaging) with genetic variants and other biomarkers identified from biospecimens; and characterization of new experimental models of eye health and disease. In fiscal year 2015, we accelerated enrollment of participants in the study. Present accrual includes over 250 participants.