Development of Foundational Collaborations and Capabilities to Advance Exposome Research in Childhood-onset Rheumatic Diseases and other Pediatric Autoimmune Conditions

发展基础合作和能力，推进儿童期风湿病和其他儿童自身免疫性疾病的暴露组研究

• 批准号: 10868992
• 负责人: MARC DAVID NATTER
• 金额: $ 48.68万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-20 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10868992
• 关键词: Academic Medical Centers; Address; Adolescent; Adult; Affect; Air; Area; Arthritis; Autoimmune Diseases; Autoimmunity; Boston; Case Report Form; Catalogs; Categories; Censuses; Child; Childhood; Chronic Childhood Arthritis; Chronic Disease; Clinical Data; Clinical Research; Collaborations; Collection; Data; Data Collection; Data Set; Data Sources; Databases; Development; Disease; Elements; Engineering; Enrollment; Environmental Exposure; Female; Funding; Future; Genome; Genomics; Genotype; Goals; Individual; Informed Consent; Infrastructure; Juvenile Dermatomyositis; Life Cycle Stages; Link; Localized scleroderma; Longevity; Medical center; Medicine; Mixed Connective Tissue Disease; Morbidity - disease rate; National Center for Advancing Translational Sciences; National Institute of Environmental Health Sciences; North America; Outcome Measure; Patient Outcomes Assessments; Patient Representative; Patients; Pediatric Hospitals; Pediatric Research; Pediatric cohort; Pediatrics; Phenotype; Policies; Population; Protocols documentation; Registries; Reporting; Research; Research Activity; Research Infrastructure; Research Personnel; Resources; Rheumatism; Rheumatology; Risk Factors; Role; Site; Sjogren' s Syndrome; Socioeconomic Status; Specimen; Standardization; Surveys; System; Systemic Lupus Erythematosus; Systemic Scleroderma; Technology; Testing; Translational Research; United States National Academy of Sciences; United States National Institutes of Health; Vision; biobank; cohort; data warehouse; demographics; disease registry; genome resource; genomic data; interest; multidisciplinary; novel strategies; phenotypic data; recruit; research study; rheumatologist; sex; social health determinants; treatment response; water quality

PROJECT SUMMARY The primary vision of this project is the establishment of investigator and network collaborations that will advance study of the role of the exposome in childhood-onset rheumatic diseases and other autoimmune conditions, with an overarching goal of creating new research resources and forming new teams of pediatric investigators from existing networks that can contribute to the nascent “EXposome in Autoimmune Disease Collaborating Teams” (EXACT) network. The recent National Academies of Science, Engineering and Medicine report “Enhancing NIH Research on Autoimmune Disease” (2022), which identified “gap areas” in contemporary research efforts of autoimmune diseases that the EXACT-PLAN Notice of Special Interest addresses, specifically endorses a life-course approach that includes a focus on children and adolescents. We seek to address this focus via collaboration between two existing pediatric networks with extensive existing phenotype and biobank resources: the investigator-sponsored Childhood Arthritis and Rheumatology Research Alliance (CARRA), which sponsors the CARRA Registry, and the NIH/NCATS funded Genomic Information Commons (GIC). The CARRA Registry has enrolled >13,000 subjects from >70 sites, with nearly 1,900 biobanked specimens, and is the largest longitudinal chronic disease registry for childhood-onset rheumatic diseases in North America, with clinical data collection and biobanking in 4 disease categories: Juvenile Idiopathic Arthritis, Systemic Lupus Erythematosus/Mixed Connective Tissue Disease/Sjogren’s Syndrome, Juvenile Dermatomyositis, and Localized and Systemic Scleroderma. The GIC network is a cooperative, phenotype-genotype biobanking effort with 8 participating pediatric academic medical centers across the US, with broad representation of subjects with differing conditions (13.7 million subjects, ~30,000 with genome- linked phenotypic data, 160,000 biospecimens collected) and provides search across sites to identify cohorts of individuals with and without rheumatic or autoimmune diseases, with infrastructure also supporting subject recruitment and biobanking for future studies. Our aims for this project are two-fold: (1) Establish a collaborative framework between investigators of the CARRA and GIC networks for augmenting current research activities with exposome data and biobank specimens; and (2) pilot the linkage of publicly available exposome data sets, including air and water quality databases, to existing data sets that the CARRA Registry and GIC maintain. We will develop and adapt policies, protocols, informed consents, case report forms, and patient surveys that are specifically targeted to incorporating exposome data for childhood-onset rheumatic diseases and other autoimmune conditions. Our multi-disciplinary project team includes researchers in pediatric rheumatology and the exposome, technology experts, and patient representatives. Completion of the aims of this project will enable new team-based collaborations to conduct future high-quality, best-practices exposome research for many pediatric autoimmune diseases as part of the future EXACT network.

项目概要 该项目的主要愿景是建立研究者和网络合作，这将 暴露组在儿童期发病的风湿病和其他自身免疫性疾病中作用的预先研究 条件，总体目标是创造新的研究资源和组建新的儿科团队 来自现有网络的研究人员可以为新生的“自身免疫性疾病暴露组”做出贡献 最近的国家科学、工程和科学院网络。 医学报告“加强 NIH 对自身免疫性疾病的研究”（2022 年），该报告确定了 EXACT-PLAN特别关注的当代自身免疫性疾病研究工作 讲话，特别赞同包括关注儿童和青少年在内的生命全程方法。 寻求通过两个现有儿科网络与广泛的现有儿科网络之间的合作来解决这一问题 表型和生物库资源：研究者资助的儿童关节炎和风湿病研究 联盟 (CARRA)，赞助 CARRA 登记处，以及 NIH/NCATS 资助的基因组信息 Commons (GIC) 注册中心已从超过 70 个站点招募了超过 13,000 名受试者，其中近 1,900 名受试者。 生物样本库，是最大的儿童期风湿病纵向慢性疾病登记处 北美疾病，在 4 个疾病类别中进行临床数据收集和生物库： 青少年 特发性关节炎、系统性红斑狼疮/混合结缔组织病/干燥综合征、 青少年皮肌炎、局限性和系统性硬皮病 GIC 网络是一个合作性的、 与美国 8 个参与的儿科学术医疗中心合作开展表型-基因型生物库工作， 具有不同条件受试者的广泛代表性（1370 万受试者，约 30,000 名基因组- 链接的表型数据，收集了 160,000 个生物样本）并提供跨站点搜索以识别群组 患有或不患有风湿病或自身免疫性疾病的个体，基础设施也支持该主题 未来研究的招募和生物样本库我们的目标有两个：（1）建立一个 CARRA 和 GIC 网络研究人员之间的合作框架，以增强当前的能力 利用暴露数据和生物样本库开展研究活动；(2) 试行公开可用的链接 将数据集（包括空气和水质数据库）暴露给 CARRA 注册中心现有的数据集 我们将制定和调整政策、协议、知情同意书、病例报告表和 专门针对儿童期发病的风湿病的暴露组数据进行的患者调查 我们的多学科项目团队包括以下领域的研究人员。 儿科风湿病学和暴露组、技术专家和患者代表完成。 该项目的目标是实现新的基于团队的合作，以开展未来的高质量、最佳实践 作为未来 EXACT 网络的一部分，针对许多儿科自身免疫性疾病的暴露组研究。