HEREDITARY ANGIONEUROTIC EDEMA (HAE)

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 C1Esterase Inhibitor(C1INH)是人体血液中的正常成分，是丝氨酸蛋白酶抑制剂(Serpins)的一种。这种蛋白质起到了抑制补体和接触系统(内在凝血)的作用。遗传性血管性水肿(HAE)表现为肢体、面部、躯干、呼吸道或腹部内脏的非瘙痒性肿胀，自发或继发于创伤。这是一种常染色体显性遗传性状，是由于C1INH活性不足所致。自从这种浓缩物在20世纪70年代初在欧洲上市以来，科学文献中就记载了使用C1INH治疗HAE患者的情况。没有证据表明C1INH有毒性。这是一项多中心开放标签研究，将评估C1INH-nf作为预防HAE攻击的有效性和安全性。受试者将每隔3-7天预防性输注C1INH-nf(大约每周1-2次)。输液时间表将由研究人员根据受试者对治疗的反应来决定。疗效将通过治疗期间发生的所有血管水肿发作的次数来分析，无论受试者是否获得开放标签C1INH-nf，并将进行总结。对于安全性分析，将总结不良经历的数量和严重程度。这项研究可能有助于为HAE患者开发替代治疗方案。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. C1 Esterase Inhibitor (C1INH) is a normal constituent of human blood and is one of the serine protease inhibitors (serpins). The protein functions as an inhibitor of the complement and contact systems (intrinsic clotting). Hereditary angioedema (HAE) is manifested by attacks of non-itching swelling of the extremities, face, trunk, airway, or abdominal viscera, occurring spontaneously or secondary to trauma. It is inherited as an autosomal dominant trait and is due to deficient activity of C1INH . Treatment of HAE patients with C1INH has been documented in the scientific literature since the concentrate became available in Europe in the early 1970's. There was no evidence of toxicity. This is a multi-center open-label study that will evaluate the efficacy and safety of C1INH-nf as prophylaxis to prevent HAE attacks. Subjects will be given prophylactic infusions of C1INH-nf every 3-7 days (approximately 1-2 times a week). The infusion schedule will be determined by the investigator based on the subject's response to the therapy. The efficacy will be analyzed by the number of all angioedema attacks that occur during the treatment irrespective of whether the subject obtained open label C1INH-nf or not and will be summarized. For analysis of safety, the number and severity of adverse experiences will be summarized. This study may help develop alternative treatment option for HAE patients.