Primary Immune Deficiency Treatment Consortium Annual Scientific Meeting

项目摘要 原发性免疫缺陷（PID）是一组罕见的免疫系统疾病，导致免疫缺陷增加。 对感染、自身免疫和恶性肿瘤易感。最严重的PID形式是致命的，除非 免疫重建通过造血细胞移植（HCT）、酶替代或基因治疗来实现。 疗法由于许多疾病和治疗相关的变量可能影响HCT后的结果， 需要在登记研究中仔细收集数据，并进行多中心合作，以便于分析 前瞻性临床试验的结果和发展。2009年，初级免疫缺陷治疗 PIDTC联盟在北美成立，目标是建立北美合作 进行回顾性、横断面和前瞻性研究，以确定风险因素、长期 严重联合免疫缺陷（SCID）儿童的结局和晚期效应，Wiskott-Aldrich 综合征（WAS）和慢性肉芽肿病（CGD），接受HCT或其他形式的确定性免疫治疗。 治疗2011年4月，第一届年度PIDCT科学研讨会在旧金山弗朗西斯科举行， 在波士顿（2012年）、休斯顿（2013年）、西雅图（2014年）、蒙特利尔（2015年）和洛杉矶（2016年）举办了研讨会。这些 讲习班和教育日提供了一个独特的和关键的论坛，聚集经验丰富的年轻人和 来自北美所有主要中心的研究人员参与了这些疾病的治疗，以及 生物统计学家和患者倡导团体，并负责启动开发 国家和国际合作。第七届PIDTC科学研讨会和教育日 Bethesda，MD（PIDTC 2017）将专注于新的及时主题，以进一步推进临床试验的发展 旨在改善PID的治疗，PID的免疫生物学，微生物组，基因治疗， 与患者倡导团体合作。讲习班的具体目标是： 1)传播关于重症肌无力患者的生存、临床状态和免疫功能的信息， 接受过HCT或其他形式治疗的PID 2)启动可通过HCT治疗的其他形式重度PID的数据收集和分析 3)分析预测HCT后成功免疫重建的生物标志物的相关性 4)讨论可最大限度减少移植相关毒性的PID HCT新方法的结果 同时允许稳健和持久的植入和免疫重建 5)为重症联合免疫缺陷新生儿制定最佳治疗方案。 6)促进在HCT治疗PID领域开展临床试验 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意识活动的患者倡导团体之间的协同作用

PROJECT SUMMARY 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 North American 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 definitive treatment. In April 2011 the first annual PIDCT Scientific Workshop was held in San Francisco followed by workshops in Boston (2012), Houston (2013), Seattle (2014), Montreal (2015) and Los Angeles (2016). These workshops and Education Days provide 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 and have been responsible for initiating the development of national and international collaborations. The proposed 7th PIDTC Scientific Workshop and Education Day in Bethesda, MD (PIDTC2017) will focus on new timely topics to further advance the development of clinical trials aimed at improving treatment of PIDs, immunobiology of PIDs, the microbiome, gene therapy, and collaborations with Patient Advocacy Groups. The specific objectives of the workshops are: 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 relevance of biological markers that 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 develop optimal treatment protocols for newborns 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