Advancing the Diagnosis and Treatment of Rare Primary Immune Disorders

推进罕见原发性免疫性疾病的诊断和治疗

• 批准号: 10018654
• 负责人: SUNG-YUN PAI
• 金额: $ 2.28万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-12 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10018654
• 关键词: Address; Affect; American; Award; B-Lymphocytes; Biological; Biology; Blood; Bone Marrow; Boston; Cell physiology; Cells; Child; Clinical; Clinical Data; Clinical Protocols; Clinical Research; Clinical Research Protocols; Clinical Trials; Collaborations; Collection; DNA; Data; Diagnosis; Diagnostic; Disease; Early Diagnosis; Enrollment; Fibroblasts; Funding; Future; Genetic; Genetic Diseases; Goals; Grant; Immune; Immune System Diseases; Infant; Innovative Therapy; Institutional Review Boards; Intervention; Leadership; National Institute of Allergy and Infectious Disease; Outcome; Patients; Pediatric Hospitals; Phenotype; Pilot Projects; Process; Productivity; Protocols documentation; Publications; Rare Diseases; Readiness; Research; Research Personnel; Research Project Grants; Sampling; Site; Skin; Specimen; T-Lymphocyte; Time; Translations; Treatment outcome; Universities; clinical database; conditioning; congenital immunodeficiency; data infrastructure; design; evidence base; exhaustion; immunoregulation; innovation; insight; meetings; novel; pre-clinical; preclinical study; programs; success

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.

PIDTC飞行员/可行性核心 摘要/摘要 主要免疫缺陷治疗联盟（PIDTC）于2009年建立为合作 在北美中心中，在治疗罕见但严重初级的婴儿和儿童方面具有专业知识 免疫缺陷（PIDS）。在此应用中，我们提出了一个临床研究项目，研究一组 新描述的疾病，主要的免疫调节性疾病（Pird，Project 6906），扩展了 PIDTC的范围包括影响免疫调节的遗传疾病。飞行员/可行性核心具有 在其一生中资助了7个项目，在过去的周期中为4个项目。这些年度$ 50,000的奖励是在严格之后授予的 审查科学功绩，优先考虑有可能影响该领域，利用数据和的项目 RDCRN和PIDTC的基础设施，并具有很高的转化为临床试验。调查人员 希望在竞争性更新过程中审查第二年的资金 申请中指出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 成功且富有成效的试点计划，将领导力转移到Sung-Yun Pai博士，以实现特定的目标 1：选择和资助PID及其治疗的及时创新研究，从而导致有形 促进PIDTC和燃料临床试验准备就绪的结果。尽管我们取得了成功 日期，我们已经认识到，使用数据和样本在 临床研究项目的背景很慢。对于未来的飞行员项目，我们将追求特定的目标2： 使用PIDTC特异性，财团，生物抽样和共享方案以促进快速 依靠患者样本的核心研究和其他研究的试验/可行性的实施。 通过这些具体目标，我们希望扩大我们利用临床研究的成功 SCID中的协议和试点项目数据，以开发和启动SCID中的循证临床试验 （调节早期诊断为诊断的婴儿，Cside研究，NCT03619551）到其他PID和矮子。