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Abstract：
Background: Gaucher disease (GD) is a rare, autosomal, recessive condition characterized by hepatosplenomegaly, thrombocytopenia, anemia, and bone abnormalities, often requiring life-long treatment. Velaglucerase alfa has improved hematologic and visceral parameters in clinical trials; however, limited long-term efficacy and safety data are available. Methods: The Gaucher Outcome Survey (GOS), a structured and validated international registry for patients with confirmed GD, provides an opportunity to evaluate long-term data from patients receiving velaglucerase alfa. Results: This analysis included 376 treatment-naïve children and adults with GD enrolled in GOS, including 20 with type 3 GD, who initiated velaglucerase alfa through participation in clinical trials or as part of their clinical management and continued treatment for a mean (range) time of 6.6 (0.003-18.6) years. Initial improvements in hematologic and visceral parameters and the biomarkers glucosylsphingosine (lyso-GL1) and chitotriosidase were observed after one year of treatment and were maintained throughout the follow-up period. Of 129 (34.3%) patients who developed adverse events during the follow-up period, events were considered related to treatment in 33 (8.8%). None led to treatment discontinuation. There were 21 deaths overall, none of which were considered related to treatment. Conclusions: This analysis of data from the GOS registry supports the safety and efficacy of velaglucerase alfa in patients with GD.
摘要：
背景:戈谢病(GD)是一种罕见的,常染色体,以肝脾肿大为特征的隐性疾病，血小板减少症,贫血,和骨骼异常，往往需要终身治疗。Velaglucerasealfa在临床试验中改善了血液学和内脏参数；然而，可获得的长期疗效和安全性数据有限.方法：戈彻结果调查(GOS)，为确诊的GD患者提供结构化和经过验证的国际注册，提供了一个机会来评估接受天鹅膏治疗的患者的长期数据。结果：这项分析包括376名接受GOS治疗的儿童和患有GD的成人，包括20个3型GD，他们通过参与临床试验或作为其临床管理的一部分开始了velaglucerasealfa，并继续治疗平均（范围）时间为6.6（0.003-18.6）年。治疗一年后观察到血液学和内脏参数以及生物标志物葡糖鞘氨醇（lyso-GL1）和壳三糖苷酶的初始改善，并在整个随访期间保持。129例（34.3%）患者在随访期间出现不良事件，33例(8.8%)的事件被认为与治疗相关.没有导致治疗中断。总共有21人死亡，其中没有一个被认为与治疗有关。结论：对来自GOS注册的数据的分析支持了velaglucerasealfa在GD患者中的安全性和有效性。
