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

NEI 视网膜疾病壁内生物样本库 (12-EI-0042)

• 批准号: 10706121
• 负责人: Tiarnan Keenan
• 金额: $ 37.11万
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10706121
• 关键词: Age related macular degeneration; Biological Markers; Biological Specimen Banks; Clinical Data; Collection; Data Collection; Data Set; Diabetic Retinopathy; Disease; Enrollment; Experimental Models; Eye; Genetic; Genotype; Health; Outcome Measure; Participant; Pathogenesis; Phenotype; Protocols documentation; Reporting; Research; Retina; Retinal Diseases; Sampling; Schedule; Specific qualifier value; Standardization; Testing; Visual Acuity; biobank; clinical database; design; genetic variant; minimal risk; novel; ocular imaging; prospective; study population; treatment response

This study establishes a clinical database and biospecimen repository related to a variety of retinal conditions, particularly age-related macular degeneration and diabetic retinopathy. In secondary studies, these may be used for the identification of novel factors relevant to the pathogenesis, progression, and response to treatment of these retinal conditions. Objectives: This study provides for the standardized collection of longitudinal clinical data and for serial collection, processing, and storage of a variety of biospecimens. In secondary studies, the clinical data set and biospecimen repository may be used to identify 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 to accrue 200 participants with age-related macular degeneration (AMD), 125 participants with diabetic retinopathy, up to 200 participants with other retinal diseases, and 125 participants without any retinal disease. Design: This protocol specifies prospective collection of longitudinal clinical data related to multiple retinal diseases and suitable controls incorporating: 1. A standardized testing schedule; and 2. Collection of biospecimens for research purposes, for which sampling does not incur more than minimal risk to participants. In secondary studies, outcome Measures may include the 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 the characterization of new experimental models of eye health and disease. In the reporting period, we continued longitudinal testing and data collection for participants and enrolled a small number of additional participants. Dr. Catherine Cukras has received approval for a pending phenotype-genotype analysis of a subset of participants with age-related macular degeneration.

这项研究建立了与各种视网膜疾病，尤其是与年龄相关的黄斑变性和糖尿病性视网膜病变有关的临床数据库和生物循环库。在二级研究中，这些方法可用于鉴定与这些视网膜条件治疗的发病机理，进展和反应有关的新因素。 目的：本研究规定了纵向临床数据的标准化收集以及串行收集，处理和存储各种生物测量。在二级研究中，可以使用临床数据集和生物循环库来鉴定与视网膜各种疾病及其相关疾病的系统相关性有关的新型遗传因素，生物标志物和实验模型。 研究人群：我们计划吸引200名患有年龄相关的黄斑变性（AMD）的参与者，125名患有糖尿病性视网膜病的参与者，多达200名患有其他视网膜疾病的参与者，还有125名没有视网膜疾病的参与者。 设计：该协议指定了与多种视网膜疾病和合适的对照组合有关的纵向临床数据的预期收集： 1。标准化的测试时间表；和 2。用于研究目的的生物测量的收集，对此目的，对参与者的采样并不会产生的风险最小。 在二级研究中，结果度量可能包括表型的关键参数（例如眼部成像上的视力和视网膜特征）与遗传变异和其他生物标志物的相互作用，以及来自生物测量的其他生物标志物，以及眼睛健康和疾病的新实验模型的表征。 在报告期间，我们继续为参与者进行纵向测试和数据收集，并招募了少数其他参与者。凯瑟琳·库克拉斯（Catherine Cukras）博士已获得对与年龄相关的黄斑变性的一部分的待处理表型基形式分析的批准。