ESTABLISH THE NATIONAL EPIDERMOLYSIS BULLOSA REGISTRY

承包商应为国家医疗机构建立临床场地 大疱性表皮松解症登记处。注册处，目的是寻找 改进基本缺陷的诊断方法，开发有效的 在治疗和预防方法上，将继续：二)制定 特征明确的不同形式的患者名单 大疱性表皮松解症(EB)。选定的患者将被要求 提供样本，并作为诊断、研究的一部分进行跟踪 在某些情况下，治疗方案；(2)准确地确定和 按临床基因类型精确计算疾病的发病率和患病率 在足够宽广的地理区域内允许数据外推 到整个美国；(3)增加遗传学信息， 特别是家庭模式或零星发生的疾病，包括 外显性和严重性；(4)评估疾病的地理分布，以 搜索集群和模式并评估社会和经济 疾病的影响；(5)形成具有相同基因的患者池 类型：关于EB发病机制和遗传学的广泛研究， 包括支持福斯特银行和支持精心设计的 精心实施的新治疗干预措施的临床试验 选定的一组患有一种或另一种形式EB的患者。

The Contractor shall establish a Clinical Site for the National Epidermolysis Bullosa Registry. The Registry, aimed at searching for the basic defect improving methods of diagnosis, and developing effective methods in treatment and prevention, will be continued to: ii) develop a roster of wellcharacterized patients with the different forms of Epidermolysis Bullosa (EB). Selected patients will be requested to contribute specimens and to be followed as part of diagnostic, research, and in some cases therapeutic, protocols; (2) determine with accuracy and precision the incidence and prevalence of diseases by clinical genetic type in a sufficiently broad geographic region to permit extrapolation of data to the United States as a whole; (3) increase information on genetics, particularly family patterns or sporadic occurrence of disease, including penetrance and severity; (4) assess disease distribution geographically, to search for clusters and patterns and assess the societal and economic impact of the disease; (5) develop a pool of patients of the same genetic type for a wide variety of studies on pathogenesis and genetics of EB, including support for the banking of foster and support well-designed and well-executed clinical trials of new therapeutic interventions in carefully selected groups of patients with one or another form of EB.