NEW YORK REGION THALASSEMIA CENTER

（摘自申请人摘要）本研究的总体目标 建议建立一个纽约地区地中海贫血中心， 可以参与NIH地中海贫血的发展和建立 临床研究网络（TCRN）。 地中海贫血的主要研究和 对新疗法的有意义的评估将大大加强， 创建这个网络。 在初步工作中，调查人员 发展了12个区域机构， 患者，并已开始编制患者数据库。 NYRTC成员 已经确定了两个中心主题作为研究模型， 合作试验：丙型肝炎（HCV）感染和骨质疏松症。 第一 一项研究提出了治疗HCV的联合疗法，HCV是一种常见的并发症， 患者在血液筛查前输血，导致风险增加 肝脏疾病（纤维化、肝硬化、癌症）由铁过载和HCV引起。 单用干扰素仅在10%的病例中有效。 试点研究， 干扰素和利巴韦林显示出希望。 研究人员建议， 分析铁状态患者和宿主特异性疾病修饰物，包括 HFE基因的突变。 这些突变影响胃肠道铁 研究人员发现，低CD8 免疫分型 第二项研究的中心是评估和治疗 骨质疏松 铁超载直接影响骨代谢， 通过对免疫、内分泌和造血系统的影响而间接产生。 骨形成和骨吸收的标志物将与骨矿物质相关 密度和各种铁相关参数以及上述 提到宿主特异性疾病修饰剂。 临床试验将在 进行评估帕米膦酸盐的有效性，一种抑制 骨吸收 同样，铁和疾病修饰剂的影响将是 考察 这些研究非常适合多中心合作。

(Adapted from the applicant's abstract) The overall objective of this proposal is to establish a New York Regional Thalassemia Center (NYRTC) that could participate in the development and establishment of the NIH Thalassemia Clinical Research Network (TCRN). Key research in thalassemia and the meaningful evaluation of new therapies would be greatly enhanced by the creation of this network. In preliminary work, the investigators have developed a group of 12 regional institutions caring for more than 200 patients and have begun compiling a patient database. Members of the NYRTC have identified two central subjects for investigation as models for collaborative trials: hepatitis C( HCV) infection and osteoporosis. The first study proposes combination therapy to treat HCV, a complication common among patients transfused before blood screening which leads to increased risk of liver disease (fibrosis, cirrhosis, cancer) from both iron overload and HCV. Interferon alone is effective in only 10% of cases. Pilot studies combining interferon and ribavirin show promise. The investigators propose to include analysis of iron status patient and host specific disease modifiers, including mutations of the HFE gene. These mutations affect gastrointestinal iron absorption and the investigators have found are associated with low CD8 immunotype. The second study centers on evaluation and treatment of osteoporosis. Iron overload influences bone metabolism both directly and indirectly through effects on the immune, endocrine and hematopoietic systems. Markers of bone formation and resorption will be correlated with bone mineral density and a variety of iron-related parameters as well as the above mentioned host specific disease modifiers. A clinical trial will be undertaken to assess the effectiveness of pamidronate, a drug that inhibits bone resorption. Again, the impact of iron and the disease modifiers will be examined. These studies are ideally suited to multicenter collaborations.