Advancing the Diagnosis and Treatment of Rare Primary Immune Disorders

PIDTC试点/可行性核心 摘要/摘要 初级免疫缺陷治疗联盟(PIDTC)成立于2009年，是一个 在北美拥有治疗婴儿和儿童罕见但严重的原发疾病的专业知识的中心 免疫缺陷(PID)。在这个应用中，我们提出了一个临床研究项目，检查一组 新描述的疾病，初级免疫调节障碍(PIRD，项目6906)，它扩展了 PIDTC的范围包括影响免疫调节的遗传疾病。试点/可行性核心具有 在其生命周期内资助了7个项目，上一个周期资助了4个项目。这些每年50,000美元的奖金是经过严格的 审查科学价值，确定有可能影响该领域的项目的优先顺序，利用数据和 RDCRN和PIDTC的基础设施，并有很高的可能性转化为临床试验。调查人员 希望获得第二年资金的人将在竞争性续签过程中进行审查，重点是 应用程序中所述的会议里程碑的演示。在此应用程序中，我们计划继续我们的 成功和富有成效的试点计划，将领导层移交给白星云博士，以实现特定目标 1：选择并资助适时的PID及其治疗方面的创新研究，从而产生有形的 促进PIDTC目标和促进临床试验准备的结果。尽管我们取得了成功， 到目前为止，我们已经认识到，利用在 临床研究项目的背景一直很缓慢。在未来的试验计划中，我们将追求具体目标2： 使用PIDTC特定的、联盟范围内的生物采样和共享协议，以促进快速 实施试点/可行性核心支持研究和其他依赖于患者样本的研究。 通过这些具体目标，我们希望扩大我们利用临床研究取得的成功 SCID的方案和试点项目数据，以开发和启动SCID的循证临床试验 (条件作用早期诊断的SCID婴儿，CSIDE研究，NCT03619551)对其他PID和PIRD的影响。

PIDTC PILOT/FEASIBILITY CORE SUMMARY/ABSTRACT The Primary Immune Deficiency Treatment Consortium (PIDTC) was established in 2009 as a collaboration among North American centers with expertise in treating infants and children with rare, but serious primary immunodeficiencies (PIDs). In this application, we propose a clinical research project examining a group of newly described disorders, the Primary Immune Regulatory Disorders (PIRD, Project 6906), which extends the scope of PIDTC to encompass genetic disorders affecting immune regulation. The Pilot/Feasibility Core has funded 7 projects in its lifetime, 4 in the past cycle. These annual $50,000 awards are granted after rigorous review for scientific merit, prioritizing projects that have the potential to impact the field, leverage data and infrastructure of the RDCRN and PIDTC, and have a high likelihood of translation to clinical trials. Investigators wishing to receive a 2nd year of funding are reviewed in a competitive renewal process that puts emphasis on demonstration of meeting milestones stated in the application. In this application, we plan to continue our successful and productive Pilot program, transitioning the leadership to Dr. Sung-Yun Pai, to fulfill Specific Aim 1: To select and fund timely innovative research in PID and its treatment which in turn results in tangible outcomes that advance the goals of PIDTC and fuel clinical trial readiness. Notwithstanding our successes to date, we have recognized that implementation of funded Pilot studies using data and samples acquired in the context of the clinical research projects has been slow. For future Pilot projects, we will pursue Specific Aim 2: To use a PIDTC-specific, consortium-wide, biological sampling and sharing protocol to facilitate rapid implementation of Pilot/Feasibility Core supported studies and other studies relying on samples from patients. Through these specific aims, we hope to broaden the success we have had leveraging clinical research protocol and Pilot project data in SCID to develop and launch an evidence-based clinical trial in SCID (Conditioning SCID Infants Diagnosed Early, CSIDE study, NCT03619551) to other PID and PIRD.