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

基本信息

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
项目类别：
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

项目摘要

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 试点/可行性核心摘要/摘要原发性免疫缺陷治疗联盟 (PIDTC) 成立于 2009 年，是一个合作组织北美中心之一，拥有治疗罕见但严重的原发性婴儿和儿童的专业知识免疫缺陷（PID）。在本申请中，我们提出了一个临床研究项目，检查一组新描述的疾病，原发性免疫调节疾病（PIRD，项目 6906），它扩展了 PIDTC 的范围涵盖影响免疫调节的遗传性疾病。试点/可行性核心有在其生命周期内资助了 7 个项目，在上一个周期资助了 4 个项目。这些年度 50,000 美元的奖项是经过严格审查后颁发的审查科学价值，优先考虑有可能影响该领域的项目，利用数据和 RDCRN 和 PIDTC 的基础设施，并且很有可能转化为临床试验。调查员希望获得第二年资助的人将在竞争性更新过程中进行审查，重点是演示申请中所述的会议里程碑。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，将领导权移交给 Sung-Yun Pai 博士，以实现具体目标 1：选择并资助 PID 及其治疗方面的及时创新研究，从而产生切实的成果推进 PIDTC 目标并促进临床试验准备的成果。尽管我们取得了成功迄今为止，我们已经认识到，利用在背景下临床研究项目进展缓慢。对于未来的试点项目，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来促进快速实施试点/可行性核心支持的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 中的协议和试点项目数据，用于在 SCID 中开发和启动循证临床试验（调节早期诊断的 SCID 婴儿，CSIDE 研究，NCT03619551）到其他 PID 和 PIRD。