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)

基本信息

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
项目类别：
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

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

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项目摘要

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）：原发性免疫缺陷疾病（PIDDS）包括一组稀有疾病，其临床表现包括多个临床专业。尽管在PIDD的分子表征中取得了巨大的进步，但几乎不知道各种形式的长期结果。开发针对PIDD的综合和协作登记处对于定义结果和优化受影响患者的临床干预措施至关重要。此外，需要增加科学界稀有患者衍生的生物样品的可用性，以促进对PIDD的有效研究。最后，专门的教育计划对于将不同学科的专家汇集在一起，并创建下一代的医师专家至关重要，这些专家将照顾PIDD患者和调查人员，他们将取得突破以增进我们对这些疾病的理解。作为参与美国免疫缺陷网络（USIDNET）的参与者，我们计划为响应RFA-AI-08-066的成功而利用其成功，以满足以下目标：目标1：扩大现有USIDNET注册表的利用，并利用与其他现有注册表和网络有关PIDD的现有注册表和网络，包括PIDD，包括国际血液和MARROW，MARROW）中性粒细胞减少国际注册机构（SCNIR）和临床和转化科学奖（CTSA）站点，从事PIDD社区的活动。我们将开发新的PIDD特定形式，扩展收集的数据，并通过与医师和倡导组织的沟通来征求参与。我们将使用经过验证的工具进行生活质量研究。我们将定义诊断和治疗方面的区域变异性，并使这些数据可用以提高提供者的意识和护理质量。 AIM 2：扩大当前的USIDNET细胞系存储库，并创建一个分布式的生物库，以扩大可以在不同地点收集的稀有患者样品和独特的试剂的可用性，并通过便利的协作共享。与CTSA财团一起，我们将为共享罕见的PIDD资源提供特定的机会。目标3：提供密集的培训和教育机会，以培养PIDD的医师科学家职业，并鼓励合作转化研究。我们将为盟军领域的医生开发教育材料，并在美国建立新的场所来建立PIDD知识。相关性（请参阅说明）：主要的免疫缺陷，如今已超过150个缺陷，为研究功能性人体免疫系统所需的单个细胞，生化和分子事件提供了独特而无与伦比的机会。该计划扩展并放大了USIDNET建立的三个关键资源，这些资源是对这些疾病进行系统研究所需的：患者注册表，存储库/生物库以及维持和执行这项工作所需的教育计划。这些将加速免疫学上的工作，并在免疫系统起着不可或缺的作用的其他疾病中极大地有益于工作。