ESTABLISH THE NATIONAL EPIDERMOLYSIS BULLOSA REGISTRY

承包商应建立一个临床研究中心， 大疱性表皮病登记研究。 登记处的目的是寻找 改进诊断方法，开发有效的 治疗和预防的方法，将继续：ii）制定一个 具有不同形式的特征良好的患者名册 大疱性表皮病（EB）。 选定的患者将被要求 贡献标本，并作为诊断，研究， 和在某些情况下的治疗方案;（2）准确地确定， 按临床遗传类型分列的疾病发病率和流行率的精确度 在一个足够广泛的地理区域内， 美国作为一个整体;（3）增加遗传学的信息， 特别是家族模式或零星发生的疾病，包括 （4）评估疾病的地理分布， 寻找集群和模式，并评估社会和经济 疾病的影响;（5）建立一个相同基因的患者库 类型的各种研究的发病机制和遗传学的EB， 包括支持银行的培育和支持精心设计的， 精心设计的新治疗干预措施的临床试验， 选择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.