Genotype-Phenotype of Patients with Plaquenil )-Induced Retinal Toxicity (ABCA4)

The Emmes Company, Llc, Rockville MD

Investigators

Abstract

Genotype-Phenotype Study of Patients with Plaquenil(Registered Trademark)-Induced Retinal Toxicity, with Evaluation of the ABCA4 Gene Clinical Protocol support contract designed to attain extramural support for developing, designing, interpreting, and evaluating clinical trials, epidemiologic and natural history studies. In addition, it will provide for outcomes research involving eye diseases and visual disorders and some preclinical studies. The focus shall be on the design of studies and the collection, analysis, and interpretation of data emanating from these studies, as well as support, and monitoring patient safety and follow-up. Contractor shall also provide analytical and data management support, as described in the work statement, for specified clinical research data bases, cost-effectiveness and economic analyses, quality of life assessment and outcomes research. This will include, but not be limited to, the following areas: analysis of Medicare and other health care databases;evaluation of existing NEI databases such as, centralized NEI Intramural Research database, the Eye Disease Case Control Study, Early Treatment Diabetic Retinopathy Study, Framingham Eye Study, and intramural AIDS and uveitis databases. Objective of Clinical Protocol: - Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person's genes explain why some people develop plaquenil-induced retinal toxicity while others do not. Objectives: - To investigate possible correlations between certain genes or genetic mutations and plaquenil-induced retinal toxicity.