Primary Immune Deficiency Treatment Consortium

描述（由申请人提供）：原发性免疫缺陷（pid）是一种罕见的、危及生命的免疫系统遗传缺陷。PID治疗联盟（PIDTC）的重点将是三种可以通过造血细胞移植（HCT）、酶替代或基因治疗治愈的PID：严重联合免疫缺陷（SCID）、Wiskott-Aldrich综合征（WAS）和慢性肉芽肿病（CGD）。该联盟的目标是描述SCID、WAS和CGD患儿接受HCT的长期结局和后期影响；确定影响HCT后SCID、WAS和CGD患儿预后的关键因素和生物学标志物；设计和实施前瞻性临床试验，改善对PID患儿的护理；证明新生儿SCID筛查的可行性；并在理解和治疗pid方面为内科科学家提供培训。项目1是一项针对SCID婴儿的前瞻性研究，旨在识别早期生物标志物和其他影响植入、早期免疫重建和存活的疾病或hct相关因素。项目2是一项关于SCID的横断面回顾性研究，探索影响长期生存、免疫重建、晚期效应和生活质量的患者和hct相关因素。项目3研究HCT治疗WAS和CGD后的早期和长期结果，评估移植对结果的影响程度，并确定哪些CGD患者最有可能从HCT中获益。试点项目计划将从新生儿SCID筛查的试点研究开始。它将确定一种新的检测方法的有效性，这种方法使用新生儿血液斑点来早期检测患有SCID的Navajo印第安人，他们的SCID发病率很高。PIDTC包括14个主要中心，为北美大多数SCID， WAS和CGD患者提供护理，首次汇集了在遗传学，分子生物学，免疫学，HCT，基因治疗和医疗管理方面具有广泛专业知识的医生/科学家。家长倡导团体将参与PIDTC的运作和监督、受试者招募以及我们研究结果的信息传播。这些研究将解决HCT治疗这些疾病的关键问题，并为未来的前瞻性临床试验奠定基础。

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.