Primary Immune Deficiency Treatment Consortium

初级免疫缺陷治疗联盟

• 批准号: 7929540
• 负责人: MORTON COWAN
• 金额: $ 123.31万
• 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 2011-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7929540
• 关键词: Primary; Immune; Deficiency; Treatment; Consortium

DESCRIPTION (provided by applicant): Primary immune deficiencies (PIDs) are rare, life-threatening inherited defects in the immune system. The focus of the PID Treatment Consortium (PIDTC) will be on three PIDs that can be cured with hematopoietic cell transplantation (HCT), enzyme replacement or gene therapy: severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). The objectives of the consortium are to characterize the long term outcomes and late effects in children with SCID, WAS and CGD who undergo HCT; to define the critical factors and biologic markers that influence the outcomes of children with SCID, WAS and CGD following HCT; to design and implement prospective clinical trials that improve care for children with PID; to prove the feasibility of newborn screening for SCID; and to provide training to physician scientists in the understanding and treatment of PIDs. Project 1 is a prospective study of SCID infants to identify early biomarkers and other disease- or HCT-related factors that affect engraftment, early immune reconstitution and survival. Project 2 is a cross-sectional retrospective study of SCID, exploring patient- and HCT-related factors that affect long term survival, immune reconstitution, late effects and quality of life. Project 3 addresses early and long-term outcomes following HCT in WAS and CGD, evaluating the degree of engraftment on outcome and identifying which patients with CGD are most likely to benefit from HCT. The Pilot Project Program will start with a Pilot Study of newborn screening for SCID. It will determine the efficacy of a novel test using newborn blood spots for early detection of SCID among Navajo Indians, who have a high incidence of SCID. The PIDTC encompasses 14 major centers that care for the majority of SCID, WAS and CGD patients in North America, bringing together for the first time physician/scientists with broad expertise in genetics, molecular biology, immunology, HCT, gene therapy and medical management. Parent advocacy groups will participate in PIDTC operations and oversight, subject recruitment, and dissemination of information resulting from our studies. These studies will resolve critical questions concerning HCT for these disorders and form the basis for future prospective clinical trials.

描述（由申请人提供）：原发性免疫缺陷（PID）在免疫系统中很少见，威胁生命的遗传缺陷。 PID治疗联盟（PIDTC）的重点将放在三个可以用造血细胞移植（HCT），酶替代或基因治疗的PID上：严重的免疫缺陷（SCID），Wiskott-Aldrich-Aldrich综合征（WAS）和慢性Granullulation（CGD）。财团的目标是表征经历HCT的SCID儿童和CGD的长期结局和后期影响；为了定义影响HCT后SCID儿童的结果和CGD的关键因素和生物标记；设计和实施前瞻性临床试验，以改善PID儿童的护理；证明新生儿筛查对SCID的可行性；并向医师科学家提供培训，以理解和治疗PID。项目1是对SCID婴儿的前瞻性研究，旨在鉴定影响植入，早期免疫重建和生存的其他疾病或HCT相关因素。项目2是对SCID的横断面回顾性研究，探索影响长期生存，免疫重建，晚期效果和生活质量的患者和HCT相关因素。项目3解决了HCT在WAS和CGD之后的早期和长期结局，评估了结果的植入程度，并确定哪些CGD患者最有可能从HCT中受益。试点项目计划将从对SCID的新生儿筛查的试点研究开始。它将确定使用新生儿斑点在纳瓦霍印第安人中早期发现SCID的新型测试的功效，后者的SCID发病率很高。 PIDTC涵盖了14个主要中心，这些中心照顾北美的大多数SCID，WAS和CGD患者，这是第一次在遗传学，分子生物学，免疫学，HCT，基因治疗和医学管理方面具有广泛专业知识的医师/科学家。家长倡导团体将参加PIDTC操作和监督，受试者招聘以及我们研究产生的信息的传播。这些研究将解决有关这些疾病HCT的关键问题，并为未来的前瞻性临床试验构成基础。