Boston Sickle Cell Research Consortium

描述(由申请人提供)： 2003年11月，“基因组时代镰刀细胞治疗的新方向”会议在美国国立卫生研究院举行。与会者的结论是，“现在是利用基因组学的开发工具和方法来开发更有效的镰状细胞病疗法的时候了”，由于“超过95%的受影响的人生活在美国以外，基因组学在镰状细胞病上的应用需要全球视野和参与。”一项关键的建议是，“应该建立一个创新的多学科镰状细胞疾病研究网络，建立一个表型良好的患者的中央前瞻性登记”，“这样一个网络的特征可能包括：DNA、细胞系、信使核糖核酸和血浆的储存库(后两者都来自有症状和无症状的个体)、标准化的表型、开放获取材料和数据、纵向随访和临床试验数据库。” 为了应对这些挑战，我们建议建立一个临床核心，包括在波士顿、纽黑文和法国巴黎的医疗中心。法国中心有近1500多名特征良好的患者，以前曾与波士顿的调查人员合作。耶鲁中心为我们的临床核心中心带来了150名新的儿科患者。这两个中心都没有参与最近在美国进行的临床试验。我们的研究课题包括：1-国家镰刀细胞病临床研究网络所有患者的基础血红蛋白基因分型和红细胞表型，并将生物样本转移到资料库供所有研究人员未来使用；1-吸入一氧化氮治疗镰状细胞血管闭塞疼痛发作的I/I 11期试验。(摘要结束)

DESCRIPTION (provided by applicant): The conference, "New Directions for Sickle Cell Therapy in the Genome Era" was held at the National Institutes of Health in November, 2003. The participants concluded that "the time is propitious to bring to bear the developing tools and approaches of genomics to develop markedly more effective therapies for sickle cell disease" and as "over 95% of affected individuals are living outside the United States, the application of genomics to sickle cell disease requires a global perspective and involvement." A key recommendation was that "An innovative multidisciplinary Sickle Cell Disease Research Network with a central prospective registry of well phenotyped patients should be established" and that "Features of such a network might include: Respositories of DNA, cell lines, mRNA, and plasma (the latter two from individuals when both symptomatic and asymptomatic), Standardized phenotypes, Open access to materials and data, Longitudinal follow-up and a Clinical trials database." To meet these challenges we propose to establish a clinical core encompassing Medical Centers in Boston, New Haven and Paris, France. The French Center has more that almost 1500 well characterized patients and has partnered before with Boston investigators. The Yale Center brings 150 new pediatric patients to our Clinical Core. Neither of these centers have participated in recent clinical trials in the United States. Our research topics include 1- basic hemoglobin genotyping and erythrocyte phenotyping of all National Sickle Cell Disease Clinical Research Network patients and the transfer of biological samples to a repository for future use by all investigators; 1-a phase I I/I 11 trial of inhaled nitric oxide for sickle cell vasoocclusive painful episode. (End of abstract)