Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)

协助原发性免疫缺陷疾病调查的资源 (U24)

• 批准号: 9013449
• 负责人: CHARLOTTE CUNNINGHAM-RUNDLES
• 金额: $ 69.82万
• 依托单位: IMMUNE DEFICIENCY FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-04-01 至 2020-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9013449
• 关键词: Affect; Ally; Autoimmune Process; Award; Blood; Categories; Cell Line; Cells; Clinical; Collaborations; Communities; Consent; Contracts; DNA; Data; Data Collection; Defect; Deficiency Diseases; Diagnosis; Disease; Educational Materials; Enrollment; Etiology; Fostering; Foundations; Funding; Funding Opportunities; Genes; Goals; Grant; Health; Human; Immune; Immune System Diseases; Immune system; Immunologic Deficiency Syndromes; Immunologics; Individual; Infant; Inflammatory; Information Dissemination; Investigation; Laboratories; Link; Marrow; Mission; National Institute of Allergy and Infectious Disease; Neonatal Screening; Observational Study; Online Systems; Outcomes Research; Pathway interactions; Patient Participation; Patient-Focused Outcomes; Patients; Physicians; Quality of life; Recruitment Activity; Registries; Research; Research Institute; Research Personnel; Resources; Scientist; Secure; Severe Combined Immunodeficiency; T-Lymphocyte; Training; Transplantation; U-Series Cooperative Agreements; United States; United States National Institutes of Health; Work; career; congenital immunodeficiency; data sharing; design; education access; experience; gene therapy; improved; innovation; international center; programs; repository; response; training opportunity

 DESCRIPTION (provided by applicant): The field of Primary Immune Deficiency Diseases PIDD continues to grow rapidly, with recognition of over 200 different disease-associated genes. To keep pace with these discoveries, the NIH has supported a number of mechanisms to accelerate and expand PIDD research, funding individual grants, contracts, and cooperative agreements. The NIAID has recognized that a number of additional resources are required to advance this work, including data collection, physician education, and access to rare resources and first proposed an RFA for this work in 2003. To answer this need, a group of experienced PIDD investigators formed the U. S. Immunodeficiency Network (USIDNET), in collaboration with the Immune Deficiency Foundation (IDF). This group was awarded the first contract, (2003-2010) and subsequently, as a competitive continuation the USIDNET was awarded a cooperative agreement for this work, receiving funds for 2010-2015. The present application is for the continuation of this work, under RFA-AI-13-054, "Resources to Assist Investigations in Primary Immunodeficiency Diseases". To continue and accelerate this momentum, the USIDNET investigators propose to carry forward this initiative, with innovative plans to extend and accelerate this work. The goals of USIDNET are to maintain, improve and extend the needed PIDD resources, including (1) Extend the scope, enrollment and utilization of the secure, web-based, consented USIDNET Registry of individuals with all forms of PIDD, to collect longitudinal data, develop additional PIDD-specific forms, support observational studies, stimulate research collaborations, engage the patient community directly and further define patient outcomes using Quality of Life indicators; (2) Maintain and expand a repository of cells and DNA to aid in the research of PIDD and find ways to make accessible other rare materials and (3) Provide intensive training and educational opportunities for dissemination of information about these diseases, and encourage collaborative PIDD research at all levels.

 描述（由申请人提供）：原发性免疫缺陷病 PIDD 领域持续快速发展，已识别出 200 多种不同的疾病相关基因。为了跟上这些发现的步伐，NIH 支持了多种机制来加速和扩大 PIDD 研究，为个人拨款、合同和合作协议提供资金。 NIAID 认识到推进这项工作需要大量额外资源，包括数据收集、医生教育和稀有资源的获取，并于 2003 年首次为这项工作提出了 RFA。为了满足这一需求，一群经验丰富的 PIDD 研究人员与免疫缺陷基金会 (IDF) 合作组建了美国免疫缺陷网络 (USIDNET)。该小组获得了第一份合同（2003-2010 年），随后，作为竞争的延续，USIDNET 获得了这项工作的合作协议，并获得了 2010-2015 年的资金。本申请是为了在 RFA-AI-13-054“协助原发性免疫缺陷疾病调查的资源”下继续这项工作。为了继续并加速这一势头，USIDNET 调查人员建议推进这一举措，并制定创新计划来扩展和加速这项工作。 USIDNET 的目标是维护、改进和扩展所需的 PIDD 资源，包括 (1) 扩大安全、基于网络、经同意的 USIDNET 登记册的范围、注册和利用，登记所有形式的 PIDD 个人，收集纵向数据，开发额外的 PIDD 特定表格，支持观察性研究，促进研究合作，直接与患者社区互动，并使用生活质量指标进一步定义患者结果； (2) 维护和扩大细胞和 DNA 存储库，以帮助 PIDD 研究，并找到获取其他稀有材料的方法；(3) 提供强化培训和教育机会，传播有关这些疾病的信息，并鼓励各级合作 PIDD 研究。