Eliglustat is a first‐line oral therapy for adults with Gaucher disease type 1 (GD1) with extensive, intermediate, or poor CYP2D6‐metabolizer phenotypes (90% of patients). We report real‐world outcomes after 2 years of eliglustat therapy in the International Collaborative Gaucher Group Gaucher Registry (NCT00358943). As of January 2019, baseline and 2‐year data (±1 year) were available for 231 eliglustat‐treated GD1 patients: 19 treatment‐naïve (zero splenectomized) and 212 ERT patients who switched to eliglustat (36 splenectomized). Most patients (89%) were from the United States, where eliglustat was first approved. In treatment‐naïve patients, mean hemoglobin increased from 12.4 to 13.4 g/dL (P = .004, n = 18), mean platelet count increased from 113 to 156 × 10⁹/L (P < .001, n = 17); mean spleen volume decreased from 7.4 to 3.5 multiples of normal (MN) (P = .02, n = 7); mean liver volume remained normal (n = 7), and median spine Z‐score was unchanged (−1.3 to −1.2, n = 6). In non‐splenectomized switch patients, mean hemoglobin remained stable/non‐anemic (n = 167); mean platelet count remained stable/normal (n = 165); mean spleen volume decreased from 3.3 to 2.8 MN (P < .001, n = 64); mean liver volume remained normal (n = 63), and median lumbar spine Z‐score improved from −0.7 to −0.4 (P = .014, n = 68). In splenectomized switch patients, mean hemoglobin remained stable/non‐anemic (n = 31); mean platelet count increased from 297 to 324 × 10⁹/L (non‐significant, n = 29); mean liver volume remained normal (n = 13); median spine Z‐score improved from −0.8 to −0.6 (non‐significant, n = 11). Median chitotriosidase decreased in all groups (P < .01 for all). These real‐world results are consistent with eliglustat clinical trial results demonstrating long‐term benefit in treatment‐naïve patients and stability in ERT switch patients.

中文翻译：

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eliglustat 在国际合作戈谢组戈谢登记处登记的初治和转换患者中的真实世界有效性。

Eliglustat 是 1 型戈谢病 (GD1) 成人的一线口服治疗，具有广泛、中等或较差的 CYP2D6 代谢表型（90% 的患者）。我们在国际合作戈谢组戈谢登记处 (NCT00358943) 报告了经过 2 年 eliglustat 治疗后的真实结果。截至 2019 年 1 月，可获得 231 名接受 eliglustat 治疗的 GD1 患者的基线和 2 年数据（±1 年）：19 名初治患者（零脾切除）和 212 名改用 eliglustat（36 名脾切除）的 ERT 患者。大多数患者 (89%) 来自美国，这是 eliglustat 首次获得批准的地方。在初治患者中，平均血红蛋白从 12.4 g/dL 增加到 13.4 g/dL ( P  = .004, n = 18)，平均血小板计数从 113 增加到 156 × 10 ⁹ /L ( P < .001，n = 17)；平均脾脏体积从正常 (MN) 的 7.4 倍减少到 3.5 倍（P  = .02，n = 7）；平均肝脏体积保持正常（n = 7），脊柱 Z 分数中位数没有变化（-1.3 到 -1.2，n = 6）。在未切除脾脏的转换患者中，平均血红蛋白保持稳定/非贫血（n = 167）；平均血小板计数保持稳定/正常（n = 165）；平均脾脏体积从 3.3 MN 减少到 2.8 MN ( P  < .001, n = 64)；平均肝脏体积保持正常（n = 63），腰椎 Z 值中位数从 -0.7 提高到 -0.4（P  = .014，n = 68）。在脾切除的转换患者中，平均血红蛋白保持稳定/非贫血（n = 31）；平均血小板计数从 297 增加到 324 × 10 ⁹/L（不显着，n = 29）；平均肝脏体积保持正常（n = 13）；脊柱 Z 值中位数从 -0.8 提高到 -0.6（不显着，n = 11）。所有组的中值壳三糖苷酶均降低（所有组P  < .01）。这些真实世界的结果与 eliglustat 临床试验结果一致，表明对初治患者的长期益处和 ERT 转换患者的稳定性。