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: 10020015
• 负责人: Henry Wiley
• 金额: $ 3.3万
• 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/10020015
• 关键词: Age related macular degeneration; Biological Markers; Clinical Data; Collection; Color; Data Set; Diabetic Retinopathy; Disease; Enrollment; Experimental Models; Eye; Eye diseases; Genetic; Health; Observational Study; Outcome Measure; Participant; Pathogenesis; Phenotype; Publications; Research; Retina; Retinal; Retinal Diseases; Sampling; Schedule; Standardization; Testing; Visual Acuity; biobank; clinical database; cohort; deep learning; design; follow-up; fundus imaging; genetic variant; minimal risk; novel; ocular imaging; prospective; repository; standard of care; study population; treatment response

This study establishes a clinical database and biospecimen repository for the 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 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 100 participants with age-related macular degeneration (AMD), 200 participants with diabetic retinopathy, up to 200 participants with other retinal diseases, and 150 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: Outcome measures 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 fiscal year 2019, we continued follow up for participants, and enrolled a small number of additional participants. Present accrual includes over 490 participants. Dr. Nida Sen (AI) got approval for a proposal for analysis of color fundus images from participants in the control cohort for use in a deep-learning study on birdshot chorioretinopathy (no publication to date).

本研究建立了一个临床数据库和生物标本库，用于识别与各种视网膜疾病的发病机制、进展和治疗反应相关的新因素，特别是年龄相关性黄斑变性和糖尿病视网膜病变及其相关的疾病系统相关性。 目的：本研究提供了纵向临床数据的标准化收集以及各种生物标本的连续收集、处理和储存。临床数据集和生物样本库将用于识别与视网膜的各种状况及其相关的疾病的全身相关性的发病机制、进展和治疗反应相关的新型遗传因素、生物标志物和实验模型。 研究人群：我们计划招募100名年龄相关性黄斑变性（AMD）参与者，200名糖尿病视网膜病变参与者，最多200名其他视网膜疾病参与者，以及150名无任何视网膜疾病的参与者。 设计：这是一项针对多种视网膜疾病和适当对照的前瞻性观察性研究，包括： 1. 眼科疾病的护理管理标准，以及标准化的随访和检测时间表;以及 2. 为研究目的采集生物样本，其采样不会给参与者带来超过最低限度的风险。 结果测量：结果指标包括表型的关键参数（如视力和眼部成像的视网膜特征）与遗传变异和从生物标本中鉴定的其他生物标志物的相互作用，以及眼睛健康和疾病的新实验模型的表征。 于二零一九财政年度，我们继续跟进参与者，并招募少量额外参与者。 目前的应计人数包括490多名参与人。Nida Sen博士（AI）批准了一项对对照组参与者的彩色眼底图像进行分析的提案，用于对鸟射性脉络膜视网膜病变进行深度学习研究（迄今为止尚未发表）。