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: 7427229
• 负责人: ELLIS J NEUFELD
• 金额: $ 17.5万
• 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/7427229
• 关键词: New; Investigation; Initiatives; Prevention; Complications

DESCRIPTION (provided by applicant): 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.

描述（由申请人提供）：这是一个综合地中海贫血护理中心的新申请，在波士顿儿童医院（CHB），与亚特兰大儿童医院的地中海贫血项目进行场外合作。这两个组织都作为分包商参加了疾病防治中心牵头的地中海贫血症项目的头五年。该提案的目的是提供地中海贫血并发症的评估、预防和管理。目标人群包括新英格兰和亚特兰大地区的个体，其患有输血依赖性β地中海贫血（塔尔）、α塔尔（纯合子和血红蛋白H疾病）、中间型塔尔和相关疾病。 塔尔的疾病负担很高。没有其他单一人群在一生中接受如此多的新鲜红细胞输注，因为输血依赖性塔尔患者（基本上是终身每月输血）。因此，筛查血液传播疾病是管理的重要组成部分。此外，输血会导致铁超载，铁相关的心脏病、肝病和内分泌疾病是这一患者组发病率和死亡率的主要原因。口服铁螯合剂的良好依从性与生存率的提高高度相关，但即使是明显螯合良好的患者，加上未输血的中间塔尔患者，也可能在数十年内发展出危及生命的铁相关并发症，包括心力衰竭、心律失常、肝硬化、糖尿病以及不孕症和其他生殖内分泌疾病。 面对这些挑战，管理，监测和预防并发症的关键包括在专家中心定期全面访问专家和测试熟练的塔尔护理，持续的血液安全监测和铁及其后遗症的测试，以及社区外展，与患者支持团体合作，家庭和患者教育，并继续心理社会评估和支持。 CHB的地中海贫血项目已经活跃了40多年，并引领了该领域的许多发展，特别是在螯合治疗方面。 该项目的具体目标是：（一）为塔尔提供全面护理，筛查潜在并发症，并实施预防并发症的策略;（二）以血友病中心和CDC使用的Do the Five策略为模型，启动患者/家庭教育计划，以促进全面护理、血源性病毒疫苗、适当螯合和血液安全监测。(III)与NIH赞助的地中海贫血临床研究网络（CHB和CHOA所属;首席研究员Neufeld博士是TCRN指导委员会主席）建立研究合作。每个目标都包含一个用于评估临床结局的研究部分，旨在为进一步研究生成假设，并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地中海贫血（库利氏贫血）患者的护理和长期健康结果。这是一个新的应用程序，以加入几个大型的美国地中海贫血项目正在进行的合作奋进，与儿童医院，波士顿作为主要网站，埃默里/亚特兰大儿童保健作为合作网站。为实现这些目标，将向依赖输血的地中海贫血病患者提供全面的医疗服务，并对患者进行血液传播感染和与输血铁过量和治疗铁问题有关的疾病并发症的筛查。我们提出了一个全国性的教育战略，类似于在血友病社区发起的努力，与疾病预防控制中心的支持，全面的护理。 我们建议在芝加哥的儿童纪念医院开发一个新的数据库，以提高电子病历的数据提取。 最后，我们建议与国家心脏，血液和肺研究所的地中海贫血临床研究网络正式合作，以利用两个网络中正在进行的纵向筛查。