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

Plaquenil（注册商标）诱导的视网膜毒性患者的基因型-表型研究，以及ABCA 4基因的评价 临床方案支持合同旨在获得开发，设计，解释和评估临床试验，流行病学和自然史研究的校外支持。此外，它将提供涉及眼科疾病和视觉障碍的结果研究以及一些临床前研究。重点应放在研究的设计和收集，分析和解释这些研究产生的数据，以及支持和监测患者的安全性和随访。承包商还应提供工作说明书中所述的分析和数据管理支持，用于指定的临床研究数据库、成本效益和经济分析、生活质量评估和结局研究。这将包括但不限于以下领域：医疗保险和其他医疗保健数据库的分析;现有NEI数据库的评估，如集中的NEI校内研究数据库，眼病病例对照研究，早期治疗糖尿病视网膜病变研究，Fracket Eye研究，以及校内艾滋病和葡萄膜炎数据库。 临床方案的目的： - Plaquenil（羟氯喹）是一种抗炎药，用于治疗一些自身免疫性疾病，如狼疮和类风湿性关节炎。这种药物可以通过引起一种称为plaquenil诱导的视网膜毒性的疾病来损害视网膜，这可能导致视力丧失。然而，大多数服用plaquenil的人不会出现这个问题。研究人员有兴趣研究一个人的基因差异是否可以解释为什么有些人会出现plaquenil诱导的视网膜毒性，而另一些人则不会。 目的： - 研究某些基因或基因突变与plaquenil诱导的视网膜毒性之间的可能相关性。

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.