Abstract：
Hereditary angioedema (HAE) and acquired C1-inhibitor deficiency (AAE-C1-INH) are orphan diseases. Berotralstat is a recently licensed long-term prophylaxis (LTP) and the first oral therapy for HAE patients. No approved therapies exist for AAE-C1-INH patients. This study is the first to report real-world clinical data of patients with AAE-C1-INH and HAE who received Berotralstat. All patients treated with Berotralstat were included in this retrospective, bi-centric study. Data was collected from patients\' attack calendars and the angioedema quality of life (AE-QoL) and angioedema control test (AECT) questionnaires before treatment, and at 3, 6, and 12 months after treatment and was then analyzed. Twelve patients were included, 3 patients with AAE-C1-INH, 7 patients with HAE type I, and 2 patients with HAE-nC1-INH. One patient (HAE I) quit treatment. Berotralstat was associated with fewer attacks in all groups. After 6 months of treatment, a median decrease of attacks per month was noted for HAE type I patients (3.3 to 1.5) and AAE-C1-INH patients (2.3 to 1.0). No aerodigestive attacks were noted for AAE-C1-INH patients. For HAE-nC1-INH patients, a mean decrease from 3.8 to 1.0 was noted (3 months). For HAE I patients, the total AE-QoL lowered a mean of 24.1 points after 6 months, for HAE-nC1-HAE patients 8.0 points, and for AAE-C1-INH patients 13.7 points. AECT scores increased for HAE I patients (mean: 7.1), HAE-nC1-INH patients (9.0), and AAE-C1-INH patients (4.2) after 6 months. Patients with HAE, HAE-nC1-INH, and AAE-C1-INH treated with Berotralstat showed reduced angioedema attacks and improved AE-QoL and AECT scores.
摘要：
遗传性血管性水肿（HAE）和获得性C1抑制剂缺乏症（AAE-C1-INH）是孤儿疾病。Berotralstat是最近获得许可的长期预防（LTP）和第一个口服治疗HAE患者。AAE-C1-INH患者没有批准的治疗方法。这项研究首次报道了接受Berotralstat的AAE-C1-INH和HAE患者的真实临床数据。所有接受Berotralstat治疗的患者均纳入本回顾性研究，双中心研究。数据来自患者的发作日历和血管性水肿生活质量（AE-QoL）和治疗前血管性水肿控制测试（AECT）问卷，并在治疗后3、6和12个月进行分析。包括12名患者，3例AAE-C1-INH，7例I型HAE患者，2例HAE-nC1-INH患者。一名患者(HAEI)退出治疗。Berotralstat与所有组中较少的攻击有关。经过6个月的治疗，HAEI型患者(3.3~1.5)和AAE-C1-INH患者(2.3~1.0)的平均每月发作次数减少.AAE-C1-INH患者未发现呼吸性发作。对于HAE-nC1-INH患者，观察到平均从3.8降至1.0(3个月).对于HAEI患者，总AE-QoL在6个月后平均降低了24.1点，对于HAE-nC1-HAE患者8.0分，AAE-C1-INH患者13.7分。HAEI患者的AECT评分增加（平均值：7.1），HAE-nC1-INH患者（9.0），和AAE-C1-INH患者（4.2）在6个月后。HAE患者,HAE-nC1-INH,用Berotralstat治疗的AAE-C1-INH显示血管性水肿发作减少，AE-QoL和AECT评分改善。
