EyeGENE: Creation of DNA Repository for Inherited Ophthalmic Diseases

国家眼科基因分型和表型网络（EyeGENE），第1阶段-创建遗传性眼科疾病的DNA库 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： 这项研究将收集遗传性眼病患者的血液和DNA样本，用于研究确定导致这些疾病的遗传因素。近年来，已经发现了近500个导致遗传性眼病的基因。致病突变与许多眼科疾病有关，包括青光眼、白内障、斜视、角膜营养不良和许多形式的视网膜变性。因此，人们正在寻求基于基因的疗法来治疗曾经被认为无法治疗的眼部遗传疾病。 国家眼科基因分型网络正在创建一个国家组织库，以进一步推进遗传性眼病的基因研究，同时为有需要的患者和医生提供临床有用的信息。合作机构的医生将招募患者参与研究。患者将提供血液样本并接受标准的眼科检查。血液样本及临床资料会送往NEI进行测试、处理及储存于组织库。患者可以选择接收结果和/或在未来的临床研究中重新联系。提供给检测实验室的信息包括唯一识别号、患者性别和患者出生日期。储存的样本将与患者的疾病信息一起沿着提供给研究人员，但没有患者标识符。

National Ophthalmic Genotyping and Phenotyping Network (EyeGENE), Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases 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: This study will collect blood and DNA samples from patients with inherited eye diseases to be used in research to identify genetic factors responsible for these conditions. In recent years, nearly 500 genes that contribute to inherited eye diseases have been identified. Disease-causing mutations are associated with many eye diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of forms of retinal degenerations. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable. The National Ophthalmic Genotyping Network is creating a national tissue repository to further advance genetic research on inherited eye disease, while at the same time providing clinically-useful information back to patients and physicians who request it.. Physicians in collaborating institutions will recruit patients to participate in the study. Patients will provide a blood sample and undergo a standard eye examination. The blood sample and clinical information will then be sent to the NEI for testing, processing and storing in the tissue repository. Patients are given the option to receive results back and/or to be re-contacted in the event of future clinical studies. Information supplied to the testing laboratories includes a unique identification number, the patient gender, and the patient date of birth. The stored samples will be made available to researchers along with information about the patient's disease, but without patient identifiers.