New Investigation Initiatives for the Prevention of Complications of Thalassemia

预防地中海贫血并发症的新研究举措

• 批准号: 7901156
• 负责人: ELLIS J NEUFELD
• 金额: $ 15万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-09-30 至 2012-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7901156
• 关键词: New; Investigation; Initiatives; Prevention; Complications

This is a new application for a comprehensive Thalassemia care center, at Children's Hospital Boston (CHB), with off-site collaboration with the Thalassemia program of Children's Hospital of Atlanta. Both organizations have been participants as subcontractors in the first five year period of the CDC-led Thalassemia project. The objectives of this proposal are to provide assessment for, and prevention and management of complications of Thalassemia. The target populations include individuals in New England and in the Atlanta region, with transfusion-dependent beta Thalassemia (Thal), alpha Thal (homozygous and hemoglobin H disease), Thal intermedia, and related disorders. The burden of disease in Thal is high. No other single group of humans receives as many fresh red cell transfusions in a lifetime as patients with transfusion-dependent Thal (essentially monthly transfusion for life). Therefore, screening for blood borne diseases is a crucial part of management. In addition, with transfusions comes obligatory iron overload, and iron-related heart disease, liver disease, and endocrinopathies are major causes of morbidity and mortality in this patient group. Good compliance with oral iron chelators is highly correlated with improved survival, but even apparently well-chelated patients, plus non-transfused Thal intermedia patients, can develop over decades, life-threatening iron-related complications including heart failure, arrhythmia, cirrhosis, diabetes, as well as infertility and other reproductive endocrine disorders. Faced with these challenges, the keys to management, surveillance and prevention of complications include regular comprehensive visits at expert centers with specialists and tests skilled in Thal care, ongoing blood safety surveillance and tests for iron and its sequelae, as well as community outreach, collaboration with patient support groups, family and patient education, and continuing psychosocial assessment and support. The Thalassemia program at CHB has been active for more than 40 years, and has led many of the developments in the field, particularly in chelation therapy. The specific aims of this project are: (I) to provide comprehensive care in Thal, screen for potential complications, and implement strategies to prevent complications; (II) to initiate a patient/family education program modeled on the Do the Five strategy used by hemophilia centers and CDC to promote comprehensive care, vaccines for blood-borne viruses, adequate chelation, and blood safety monitoring. (III) To establish research collaboration with the NIH-sponsored Thalassemia Clinical Research Network (to which CHB and CHOA belong; and principal investigator Dr. Neufeld is chair of the TCRN steering committee.) Each aim contains a research component for assessment of clinical outcomes, aimed at generating hypothesis for further research, and providing opportunities to improve care and reduce complications. Narrative: The purpose of this project is to improve care and long-term health outcomes in patients with Thalassemia (Cooley's Anemia). This is a new application to join an ongoing cooperative endeavor of several large US Thalassemia programs, with Children's Hospital, Boston as the primary site, and Emory/Children's Healthcare of Atlanta as a collaborating site. The goals will be achieved by providing comprehensive medical services to patients with transfusion-dependent Thalassemia, and screening patients for blood-borne infections and for complications of the disorder, which are related to transfusional iron overload and to treatment of iron problems. We propose a nationwide educational strategy analogous to the efforts launched in the hemophilia community, with CDC support, for comprehensive care. We propose to pilot a new database under development at Children's Memorial Hospital in Chicago, to improve data abstraction from the electronic medical records. Finally, we propose formal collaboration with the Thalassemia clinical research network of the National Heart, Blood, and Lung Institute, to leverage the ongoing longitudinal screening in both networks.

这是波士顿儿童医院综合性地中海贫血护理中心的新应用程序 (CHB)，与亚特兰大儿童医院的地中海贫血项目进行异地合作。两个都 在 CDC 主导的第一个五年期间，组织一直作为分包商参与 地中海贫血项目。本提案的目的是提供评估、预防和 地中海贫血并发症的治疗。目标人群包括新英格兰地区的个人 在亚特兰大地区，患有输血依赖性 β 地中海贫血 (Thal)、α Thal（纯合子） 和血红蛋白 H 病）、Thal 中间体和相关疾病。塔尔 的疾病负担是 高的。没有任何其他人群在一生中接受如此多的新鲜红细胞输注 依赖输血的 Thal 患者（基本上终生每月输血）。因此，筛选 血源性疾病是管理的重要组成部分。此外，输血还必须补充铁质 超负荷、与铁相关的心脏病、肝病和内分泌疾病是导致这些疾病的主要原因 该患者组的发病率和死亡率。口服铁螯合剂的良好依从性高度相关 生存率有所提高，但即使是明显螯合良好的患者，加上非输血的 Thal 中间体 患者可能会在几十年内出现危及生命的铁相关并发症，包括心力衰竭， 心律失常、肝硬化、糖尿病，以及不孕不育等生殖内分泌失调。面对 面对这些挑战，管理、监测和预防并发症的关键包括 定期对专家中心进行全面访问，由擅长 Thal 护理的专家和测试进行，正在进行 血液安全监测和铁及其后遗症检测，以及社区外展、合作 与患者支持小组、家庭和患者教育以及持续的心理社会评估和 支持。 CHB 的地中海贫血项目已开展了 40 多年，并领导了许多 该领域的进展，特别是螯合疗法的进展。本项目的具体目标是：（一） 在塔尔提供全面的护理，筛查潜在的并发症，并实施策略 预防并发症； (II) 启动仿照“五项行动”的患者/家庭教育计划 血友病中心和疾病预防控制中心用于促进综合护理、血源性疫苗接种的策略 病毒、充足的螯合和血液安全监测。 （三）与科研机构建立科研合作 NIH 资助的地中海贫血临床研究网络（CHB 和 CHOA 所属；以及主要成员） 研究员 Neufeld 博士是 TCRN 指导委员会主席。）每个目标都包含一项研究 用于评估临床结果的组成部分，旨在为进一步研究产生假设，以及 提供改善护理和减少并发症的机会。叙述： 该项目的目的是改善护理和长期健康结果 地中海贫血（库利贫血）患者。这是加入一个新的应用程序 美国几个大型地中海贫血项目正在进行的合作努力， 波士顿儿童医院作为主要站点，埃默里/儿童医疗保健中心 亚特兰大作为合作站点。这些目标将通过提供 为输血依赖患者提供综合医疗服务 地中海贫血，以及筛查患者的血源性感染和 该疾病的并发症，与输血铁超负荷和 治疗铁问题。我们提出全国教育战略 类似于与 CDC 一起在血友病界发起的努力 支持，全面关怀。我们建议在以下条件下试点一个新的数据库 芝加哥儿童纪念医院的开发，以改进数据 从电子病历中提取。最后，我们提出正式的 与国家地中海贫血临床研究网络合作 心脏、血液和肺研究所，利用正在进行的纵向筛查 在两个网络中。