Survival and Disease Correction Following Hematopoietic Cell Transplantation of W

关于造血细胞移植(HCT)结果的信息，目前唯一可用的 缺乏对Wiskott Aldrich综合征(Was)和慢性肉芽肿病(CGD)患者的治疗 由于这些疾病的相对罕见，以及各中心之间缺乏协调努力来收集 并收集这些患者的完整数据。此外，血细胞移植仍有发生这两种疾病的重大风险。 在使用常规治疗方法对这些疾病的管理继续改善的同时，这些疾病的死亡率也有所下降。 此外，基因治疗的不断进步使得确定影响基因治疗的因素变得至关重要。 移植结果以及确定哪些患者将从移植中受益最多。目标是 项目3的目的是对心脏骤停治疗后的结果进行回顾性和横断面研究 在北美执行CGD，以描述这两种程序的风险和好处 罕见的免疫系统疾病。具体目标是：1)表征生物因素，包括 确定患者的存活率、免疫重建和长期预后，以及2)确定危重的 预测HCT治疗CGD后存活和疾病纠正的因素，并确定哪些患者符合 应该接受红细胞压积治疗。我们将使用回溯性、横断面和纵向研究来检验假设 关于矫正疾病表现所需的供体植入程度， 以及最有可能从HCT中受益的CGD患者类型。财团的发展将使 从足够数量的患者收集分子和临床数据，以获得统计数据 在我们的分析中具有重要意义，否则单一机构不可能做到这一点。我们有 有治疗这些疾病患者的专业知识，并在作为转诊中心的机构工作 这些患者是这些研究成功的关键因素。所获得的信息不仅将用于 以指导将来的心脏移植和CGD患者，但也可能对患者有益 有其他免疫缺陷，甚至有其他非恶性血液疾病。

Information regarding the outcomes of hematopoietic cell transplantation (HCT), currently the only available cure for patients with Wiskott Aldrich syndrome (WAS) and Chronic granulomatous disease (CGD), is lacking due to the relative rarity of these diseases, and the lack of a coordinated effort amongst centers to collect and compile complete data on these patients. Moreover, HCT still entails significant risk of both morbidity and mortality, while management of these disorders using conventional treatments continues to improve. Furthermore, continuing advances in gene therapy make it essential to identify factors that impact on transplant outcomes as well as to identify those patients who would benefit most from transplant. The Goal of Project 3 is to undertake retrospective and cross sectional studies of outcomes after HCT for WAS and CGD performed in North America in order to delineate the risks and benefits of this procedure for these two rare disorders of the immune system. The Specific Aims are: 1) To characterize the biologic factors which determine survival, immune reconstitution and long term outcomes in WAS and 2) To determine the critical factors that predict survival and disease correction following HCT for CGD and identify those patients who should receive an HCT. Using retrospective, cross sectional and longitudinal studies we will test hypotheses concerning the degree of donor engraftment necessary to correct disease manifestations in WAS and CGD, and the type of patient with CGD most likely to benefit from HCT. The development of a consortium will allow the collection of both molecular and clinical data from a sufficient number of patients to obtain statistical significance in our analyses, which would not otherwise be possible by a single institution. We have expertise in treating patients with these disorders and work at institutions that serve as referral centers for these patients, a crucial factor in the success of these studies. The information obtained will not only be used to guide transplantation for patients with WAS and CGD in the future, but may also be beneficial for patients with other immunodeficiencies and even those with other non-malignant hematologic conditions.