Primary Immune Deficiency Treatment Consortium Annual Scientific Meeting

描述（由申请方提供）：原发性免疫缺陷（PID）是一组罕见的免疫系统疾病，导致对感染、自身免疫和恶性肿瘤的易感性增加。最严重的PID形式是致命的，除非通过造血细胞移植（HCT），酶替代或基因治疗实现免疫重建。由于许多疾病和治疗相关变量可能影响HCT后的结局，因此需要在登记研究中仔细收集数据并进行多中心合作，以促进结局分析和前瞻性临床试验的开发。 2009年，北美成立了原发性免疫缺陷治疗联盟（PIDTC），其目标是建立一个全国范围的合作，开展回顾性、横断面和前瞻性研究，以确定严重联合免疫缺陷（SCID）儿童的风险因素、长期结局和迟发效应。Wiskott-Aldrich综合征（WAS）和慢性肉芽肿病（CGD），接受HCT或其他形式的治疗。 拟议的年度PIDTC科学研讨会将代表一个独特而重要的论坛，汇集来自北美所有参与这些疾病治疗的主要中心的经验丰富和年轻的研究人员，以及生物统计学家和患者倡导团体。PIDTC研讨会将重点关注及时的主题，以促进旨在改善PID治疗的临床试验的发展。讲习班的具体目标如下：1）传播关于生存、临床状况、已接受HCT或其他形式治疗的重度PID患者的免疫功能2）启动HCT可治疗的其他形式重度PID的数据收集和分析3）分析可以预测HCT后成功免疫重建的生物标志物的相关性4）讨论用于PID的HCT新方法的结果，该方法可以最大限度地减少移植-5）讨论新生儿SCID筛查并制定治疗诊断为SCID的新生儿的方案。 6)促进HCT治疗PID领域的临床试验的发展7）促进对PID治疗有特殊兴趣的年轻研究者的教育8）增加积极参与PID宣传活动的患者倡导团体之间的协同作用 公共卫生相关性：严重形式的先天性原发性免疫缺陷（PID）是致命的，除非通过造血细胞移植（HCT），酶替代或基因治疗进行治疗。2009年，北美成立了原发性免疫缺陷治疗联盟（PIDTC），其目标是建立多中心合作，以改善接受HCT或其他形式治疗的PID患者的结局。拟议的年度PIDTC科学研讨会将聚集来自北美所有主要中心的经验丰富和年轻的研究人员参与这些疾病的治疗。讨论将集中在及时的主题，以促进旨在改善PID治疗的多中心国家和国际临床试验的发展。与患者倡导团体的互动将促进PID意识运动的协同作用。

DESCRIPTION (provided by applicant): Primary immune deficiencies (PIDs) are a group of rare disorders of the immune system, resulting in increased susceptibility to infections, autoimmunity and malignancies. The most severe forms of PIDs are fatal, unless immune reconstitution is achieved by hematopoietic cell transplantation (HCT), enzyme replacement or gene therapy. Because of the many disease- and treatment-related variables that may affect outcome after HCT, both careful collection of data in Registries and multicenter collaboration are needed to facilitate analysis of outcome and development of prospective clinical trials. In 2009, the Primary Immune Deficiency Treatment Consortium (PIDTC) was established in North America with the goal of building a nation-wide collaboration to carry-out retrospective, cross-sectional and prospective studies that would define risk factors, long term outcomes and late effects in children with Severe Combined Immunodeficiency (SCID), Wiskott-Aldrich Syndrome (WAS) and Chronic Granulomatous Disease (CGD) who receive HCT or other forms of treatment. The proposed annual PIDTC Scientific Workshop will represent a unique and critical forum to assemble experienced and young investigators from all major centers in North America involved in the treatment of these disorders, as well as biostatisticians and Patient Advocacy Groups. The PIDTC Workshop will focus on timely topics to facilitate development of clinical trials aimed at improving treatment of PIDs. The specific objectives of the workshop are as follows: 1) To disseminate information on survival, clinical status, and immune function in patients with severe PIDs who have received HCT or other forms of treatment 2) To initiate data collection and analysis in other forms of severe PIDs that can be treated by HCT 3) To analyze the relevance of biological markers that can predict successful immune reconstitution following HCT 4) To discuss the results of novel approaches to HCT for PID that may minimize transplant-related toxicity while allowing robust and durable engraftment and immune reconstitution 5) To discuss newborn screening for SCID and develop protocols for treating newborn infants diagnosed with SCID. 6) To prompt development of clinical trials in the field of HCT for PIDs 7) To promote education of young investigators with a specific interest in treatment of PIDs 8) To increase synergy among Patient Advocacy Groups actively involved in PID awareness campaigns PUBLIC HEALTH RELEVANCE: Severe forms of congenital Primary immune deficiencies (PIDs) are fatal, unless treated by hematopoietic cell transplantation (HCT), enzyme replacement or gene therapy. In 2009, the Primary Immune Deficiency Treatment Consortium (PIDTC) was established in North America with the goal of building multicenter collaboration to improve outcome in PID patients who receive HCT or other forms of treatment. The proposed annual PIDTC Scientific Workshop will assemble experienced and young investigators from all major centers in North America involved in the treatment of these disorders. Discussion will focus on timely topics to facilitate development of multicenter national and international clinical trials aimed at improving treatment of PIDs. Interaction with Patient Advocacy Groups will promote synergy in PID awareness campaigns.