Rare Thrombotic Diseases Clinical Research Network

描述（由申请方提供）：与血栓形成风险增加相关的罕见疾病包括抗磷脂抗体综合征（APS）、肝素诱导的血小板减少症（HIT）、合并的嗜血栓状态、阵发性睡眠性血红蛋白尿、血栓性血小板减少性紫癜和灾难性“血栓风暴”。 这些疾病经常表现出更“侵略性”的临床表型，影响动脉，静脉，和/或微血管床。每种疾病都存在诊断和/或治疗局限性，需要进行前瞻性研究以更清楚地定义综合征并开发更好的治疗方法。该申请是一个多机构的学术中心，专注于罕见的血栓性疾病，将通过以下目标开发： (1)建立罕见病临床研究中心，专注于罕见血栓性疾病。来自四个学术中心的研究者将汇集现有的登记研究（例如，抗磷脂综合征协作登记处）和程序（例如，CDC申办的血栓形成项目;杜克人类遗传学中心），以确定患者并将其招募到假设驱动的前瞻性临床试验中，这些试验的重点是： .家族性APS、家族性APS/自身免疫综合征和灾难性“血栓风暴”患者的遗传分析 .识别抗磷脂抗体和HIT患者血栓形成的危险因素。 .明确体外循环术后肝细胞-血小板因子4抗体升高患者的自然史。 将确定正在进行的研究中出现的机会，以促进新的研究方向，项目和翻译活动，促进中心与行业之间的联系。 (2)为对罕见血栓性疾病感兴趣的新研究者制定培训计划。将制定一项计划，结合临床管理以及涉及罕见血栓性疾病患者的流行病学，遗传学，诊断和治疗研究的机会。 (3)开发一个网站，促进涉及罕见血栓性疾病患者的教育和研究活动。该网站将与数据技术和协调中心以及其他罕见疾病研究中心一起开发，并将面向患者，医疗保健提供者和公众。

DESCRIPTION (provided by applicant): Rare disorders that are associated with an increased thrombotic risk include the antiphospholipid antibody syndromes (APS), heparin-induced thrombocytopenia (HIT), combined thrombophilic states, paroxysmal nocturnal hemoglobinuria, thrombotic thrombocytopenic purpura, and the catastrophic 'thrombotic storm'. These disorders frequently exhibit more "aggressive" clinical phenotypes, affecting arterial, venous, and/or microvascular beds. Diagnostic and/or therapeutic limitations exist for each of these disorders, and prospective studies are needed to more clearly define the syndromes and develop better therapies. This application is for a multi-institutional academic center that focuses on rare thrombotic disorders, which will be developed through the following Aims: (1) Establish a Rare Disease Clinical Research Center focused on rare thrombotic disorders. Investigators from four academic centers will bring together existing registries (e.g., Antiphospholipid Syndrome Collaborative Registry) and programs (e.g., CDC-sponsored Thrombophilia Programs; Duke Center for Human Genetics) to identify and enroll patients into hypothesis-driven prospective clinical trials that focus on: . Genetic analysis of familial APS, familial APS/autoimmunity syndromes, and patients with catastrophic "thrombotic storm". . Identify risk factors for thrombosis in patients with antiphospholipid antibodies and HIT. . Define the natural history of patients with elevated hepadn-platelet factor 4 antibodies after bypass. Emerging opportunities from ongoing studies will be identified that promote new research directions, projects, and translational activities that foster links between the Center and industry. (2) Develop a training program for new investigators who are interested in rare thrombotic disorders. A program will be instituted that combines opportunities in clinical management as well as epidemiologic, genetic, diagnostic, and therapeutic investigations involving patients with rare thrombotic disorders. (3) Develop a web site that promotes education and research activities involving patients with rare thrombotic disorders. The web-site will be developed with the Data Technology and Coordinating Center and other Rare Disease Research Centers and will be for patients, healthcare providers, and the general public.