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: 8054394
• 负责人: CHARLOTTE CUNNINGHAM-RUNDLES
• 金额: $ 59.4万
• 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 2015-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8054394
• 关键词: Address; Advocacy; Affect; Ally; Area; Award; Awareness; Biochemical; Biological; Blood; Bone Marrow Transplantation; Caring; Categories; Cell Line; Chronic; Clinical; Clinical Research; Clinical Sciences; Clinical and Translational Science Awards; Collaborations; Collection; Communicable Diseases; Communication; Communities; Consensus; Contracts; Data; Data Collection; Defect; Deficiency Diseases; Development; Diagnosis; Discipline; Disease; Doctor of Philosophy; Educational Activities; Educational Materials; Enrollment; Ensure; Event; Fostering; Foundations; Funding; Future; Gastroenterologist; Genetic; Goals; Hematology; Human; Immune; Immune system; Immunologic Deficiency Syndromes; Immunologist; Immunology; Individual; Informatics; Institution; Instruction; International; Intervention; Investigation; Knowledge; Link; Mission; Molecular; Mutation; Names; National Institute of Allergy and Infectious Disease; National Institute of Child Health and Human Development; Neutropenia; Observational Study; Oncologist; Otolaryngologist; Outcome; Outcomes Research; Participant; Patients; Physicians; Play; Primary Health Care; Principal Investigator; Provider; Published Comment; Quality of Care; Quality of life; Rare Diseases; Reagent; Records; Registries; Reporting; Research; Research Personnel; Resource Sharing; Resources; Role; Sampling; Scientist; Site; Specialist; Technology; Therapeutic Intervention; Time; Training; Training Activity; Translational Research; United States; United States National Institutes of Health; Update; Work; base; biobank; career; cohort; data registry; design; experience; forging; improved; instrument; interest; international center; medical specialties; meetings; next generation; patient registry; programs; repository; response; rheumatologist; success

DESCRIPTION (provided by applicant): Primary Immune Deficiency Diseases (PIDDs) include a group of rare diseases whose clinical manifestations encompass multiple clinical specialties. While great progress has been made in the molecular characterization of PIDDs, little is known of long-term outcome of the various forms. Development of comprehensive and collaborative Registries for PIDDs is of utmost importance to define outcomes and optimize clinical interventions in affected patients. In addition, there is a need to I\increase availability and sharing of the rare patient derived biological samples across the scientific community to facilitate efficient study of PIDDs. Finally, dedicated educational initiatives are essential to bring together specialists from different disciplines and create the next generation of physician experts who will care for PIDD patients and investigators who will make breakthroughs to increase our understanding of these disorders. As participants in the creation and development of the United States Immune Deficiency Network (USIDNET) we plan to capitalize on Its success in response to RFA-AI-08-066 to meet the following goals: Aim 1: Expand utilization of the existing USIDNET Registry and forge links with other existing Registries and networks with an interest in PIDD, including the Center for International Blood and Marrow Transplantation Research (CIBMTR), the Severe Chronic Neutropenia International Registries (SCNIR) and the Clinical and Translational Science Award (CTSA) sites that pursue activities in the PIDD community. We will develop new PIDD-specific forms, expand the data collected, and solicit participation through communication with physicians and advocacy groups. We will perform Quality of Life studies using validated instruments. We will define regional variability in diagnosis and treatment and make these data available to improve provider awareness and quality of care. Aim 2: Enlarge the current USIDNET Repository of cell lines, and create a Distributed Biobank to extend the availability of rare patient samples and unique reagents that can be collected at diverse sites and shared through facilitated collaborations. In conjunction with the CTSA Consortium we will build specific opportunities for sharing rare PIDD resources. Aim 3: Provide intensive training and educational opportunities to foster physician-scientist careers in PIDD and encourage collaborative translational research. We will develop educational materials for physicians in allied fields and establish new venues for building PIDD knowledge in the United States. RELEVANCE (See instructions): Primary immune defects, now numbering over 150 defects, have provided unique and unparalleled opportunities to study the individual cellular, biochemical and molecular events necessary for a functional human immune system. This program extends and amplifies three key resources established by the USIDNET, needed for the systematic study of these diseases: a Patient Registry, a Repository/Biobank and an educational program needed to sustain and carry out this work. These will accelerate work in immunology and will greatly benefit work in other diseases in which the immune system plays a integral role.

描述（由申请人提供）：原发性免疫缺陷病（PIDD）包括一组临床表现涵盖多个临床专科的罕见疾病。虽然 PIDD 的分子表征取得了巨大进展，但对各种形式的长期结果知之甚少。开发全面、协作的 PIDD 登记对于确定受影响患者的结果和优化临床干预至关重要。此外，有必要在整个科学界增加稀有患者生物样本的可用性和共享，以促进 PIDD 的有效研究。最后，专门的教育举措至关重要，可以将不同学科的专家聚集在一起，培养下一代护理 PIDD 患者的医生专家和能够取得突破性进展以增进我们对这些疾病的了解的研究人员。作为美国免疫缺陷网络 (USIDNET) 创建和开发的参与者，我们计划利用其成功响应 RFA-AI-08-066 来实现以下目标： 目标 1：扩大现有 USIDNET 注册中心的利用并与其他对 PIDD 感兴趣的现有注册机构和网络建立联系，包括国际血液和骨髓移植研究中心 (CIBMTR)、严重慢性中性粒细胞减少症国际组织注册管理机构 (SCNIR) 和临床与转化科学奖 (CTSA) 网站在 PIDD 社区中开展活动。我们将开发新的 PIDD 特定表格，扩大收集的数据，并通过与医生和倡导团体的沟通来征求参与。我们将使用经过验证的仪器进行生活质量研究。我们将定义诊断和治疗的区域差异，并提供这些数据以提高提供者的意识和护理质量。目标 2：扩大当前的 USIDNET 细胞系存储库，并创建分布式生物库，以扩大稀有患者样本和独特试剂的可用性，这些样本和独特试剂可以在不同地点收集并通过促进合作共享。我们将与 CTSA 联盟合作，建立共享稀有 PIDD 资源的特定机会。目标 3：提供强化培训和教育机会，以促进 PIDD 领域的医师科学家职业生涯，并鼓励合作转化研究。我们将为相关领域的医生开发教育材料，并在美国建立建立 PIDD 知识的新场所。 相关性（参见说明）：原发性免疫缺陷目前已超过 150 种缺陷，为研究人类免疫系统功能所需的个体细胞、生化和分子事件提供了独特且无与伦比的机会。该计划扩展并扩大了 USIDNET 建立的系统研究这些疾病所需的三个关键资源：患者登记、存储库/生物库以及维持和开展这项工作所需的教育计划。这些将加速免疫学的工作，并将极大地有利于免疫系统在其中发挥不可或缺作用的其他疾病的工作。