Annual Primary Immune Deficiency Treatment Consortium (PIDTC) Workshop and Education Day

项目摘要 原发性免疫缺陷（PID）是一组超过480种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）或基因治疗实现免疫重建。 疗法2009年，成立了原发性免疫缺陷治疗联合会， 回顾性和前瞻性研究的风险因素，长期结果和个人的迟发效应， 严重联合免疫缺陷（SCID）、Wiskott-Aldrich综合征（WAS）和慢性肉芽肿性 疾病（CGD）; 2019年资助周期是研究原发性免疫调节障碍（PIRD）的方案 加入浓度由于个体PID很少见，因此需要多中心合作来系统收集 研究结果和开发临床试验以确定最佳干预措施的详细数据。 从2011年开始举办的年度研讨会，由NIAID的R13奖持续资助， 来自PIDTC研究中心的参与调查人员，现在包括美国47个学术中心 和加拿大这些研讨会和教育日，后者在2016年增加，以鼓励和培训 多样化的新专家组，促进医生，基础科学家，病人倡导者之间的互动， 让受训者成为领导者。此应用程序请求继续为PIDTC提供R13支持 未来三年的工作坊。第十三届PIDTC科学研讨会和教育日 俄亥俄州辛辛那提（PIDTC 2023）将以"原发性免疫疾病的新疗法"为主题。我们将提供 主题包括感染的细胞疗法，移植物抗宿主病，基因疗法， 临床试验计划在2023年和2024年举办两次研讨会。 具体目标是： 1.收集、分析和传播有关患者生存、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患者。 2.建立生物标记物以预测治疗后成功的免疫重建。 3.评价治疗PID的新方法，最大限度地减少HCT相关毒性，同时促进稳健的 以及持久的植入和免疫重建。 4.为通过新生儿筛查确定的SCID婴儿制定最佳治疗方案。 5.开展临床试验，以确定治疗PID的最佳实践。 6.鼓励学员成为下一代PID专家。 7.招募和培训代表性不足的少数民族医生到PID领域。 8.增加来自不同背景的科学家、医生和患者倡导者之间的协同作用， 提高公众对预防艾滋病认识和教育。

Project Summary Primary immune deficiencies (PIDs) are a group of over 480 rare disorders of the immune system that result 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) or gene therapy. In 2009, the Primary Immune Deficiency Treatment Consortium (PIDTC) was established to conduct retrospective and prospective studies of risk factors, long term outcomes and late effects in individuals with severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD); with the 2019 funding cycle a protocol to study primary immune regulatory disorders (PIRD) was added. Because individual PIDs are rare, multicenter collaborations are needed to systematically collect detailed data to study outcomes and to develop clinical trials to determine the best interventions. Annual Workshops, starting in 2011, and continuously funded by R13 awards from NIAID, have brought together participating investigators from the PIDTC sites, now comprising 47 academic centers across the US and Canada. These Workshops and Education Days, the latter added in 2016 to encourage and train a diverse group of new experts, fosters interaction between physicians, basic scientists, patient advocates, and engage trainees who then become leaders. This application requests continuation of R13 support for PIDTC Workshops for the coming 3 years. The proposed 13th PIDTC Scientific Workshop and Education Day in Cincinnati, Ohio (PIDTC2023) will be themed “New Treatments for Primary Immune Disorders.” We will offer topics including cellular therapies for infections, graft vs. host disease, gene therapy, and development of clinical trials. Plans for the two following workshops in 2023 and 2024 are described. The specific objectives are: 1. Collect, analyze and disseminate information on survival, clinical status, and immune function in patients with PIDs who have received HCT or other forms of treatment. 2. Establish biological markers to predict successful immune reconstitution following treatments. 3. Evaluate novel approaches to treatment for PIDs that minimize HCT-related toxicity while fostering robust and durable engraftment and immune reconstitution. 4. Develop optimal treatment protocols for infants with SCID identified by newborn screening. 5. Develop clinical trials to define best practices for treatment of PIDs. 6. Encourage trainees to become the next generation of PID experts. 7. Recruit and train underrepresented minority physicians to the field of PID. 8. Increase synergy between scientists, physicians, and patient advocates from diverse backgrounds to improve PID awareness and public education.