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或其他形式的确定性治疗。2011年4月，在旧金山弗朗西斯科举行了第一届年度PIDCT科学研讨会，随后分别于2012年和2013年在波士顿和休斯顿举行了研讨会。这些研讨会提供了一个独特而重要的论坛，汇集了来自北美所有参与治疗这些疾病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，并负责启动国家和欧洲合作的发展。在西雅图举办的第四届PIDTC年度科学研讨会将重点关注新的及时主题，以进一步推进旨在改善PID治疗的临床试验的发展，与亚洲和南美的国际合作，以及与患者倡导团体的调查研究。讲习班的具体目标是：1）传播关于生存、临床状况、2）在接受HCT或其他形式治疗的重度PID患者中开始数据收集和分析，3）分析预测HCT后成功免疫重建的生物标志物的相关性4）讨论用于PID的HCT的新方法的结果，该方法可以最小化移植相关毒性，同时允许稳健和持久的植入和免疫重建5）促进新生儿筛查并为患有SCID的新生儿制定最佳治疗方案。 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

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 definitive treatment. In April 2011 the first annual PIDCT Scientific Workshop was held in San Francisco followed by workshops in Boston and Houston in 2012 and 2013, respectively. These workshops have provided 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 has been responsible for initiating the development of national and European collaborations. The proposed 4th annual PIDTC Scientific Workshop in Seattle will focus on new timely topics to further advance the development of clinical trials aimed at improving treatment of PIDs, international collaborations with Asia and South America, and survey studies with Patient Advocacy Groups. The specific objectives of the workshop 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 promote newborn screening and 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