The aim of this study was to compare the long‐term outcome of classic infantile Pompe patients treated with 20 mg/kg alglucosidase alfa every other week (eow) to those treated with 40 mg/kg/week, and to study the additional effect of immunomodulation. Six patients received 20 mg/kg eow and twelve 40 mg/kg/week. Five patients were cross‐reactive immunologic material (CRIM)‐negative, two in the 20 mg, three in the 40 mg group. We compared (ventilator‐free) survival, motor outcome, infusion associated reactions (IARs), and antibody formation. From 2012 on patients >2 months in the 40 mg group also received immunomodulation with rituximab, methotrexate, and intravenous immunoglobulin (IVIG) in an enzyme replacement therapy (ERT)‐naïve setting. Survival was 66% in the 20 mg group and 92% in the 40 mg group. Ventilator‐free survival was 50% and 92%. Both CRIM‐negative patients in the 20 mg group died, whereas all three are alive in the 40 mg group. In the 20 mg group, 67% learned to walk compared with 92% in the 40 mg group. At the age of 3 years, 33% and 92% were able to walk. Peak antibody titers ranged from 1:1250 to 1:31 250 in the 20 mg group and from 1:250 to 1:800 000 in the 40 mg group. Five patients of the 40 mg group of whom two CRIM‐negative also received immunomodulation. B‐cell recovery was observed between 5.7 and 7.9 months after the last dose of rituximab. After B‐cell recovery titers of patients with and without immunomodulation were similar (ranges 1:6 250‐1:800 000 and 1:250‐1:781 250). This study shows that classic infantile patients treated with 40 mg/kg/week from the start to end have a better (ventilator‐free) survival and motor outcome. Immunomodulation did not prevent antibody formation in our study.

中文翻译：

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更高更频繁的阿糖苷酶 α 给药和免疫调节对经典婴儿 Pompe 患者长期临床结果的影响。

本研究的目的是比较经典婴儿庞贝氏症患者每隔一周 (eow) 接受 20 mg/kg 阿尔法糖苷酶治疗与接受 40 mg/kg/周治疗的患者的长期结果，并研究免疫调节。6 名患者接受 20 mg/kg eow，12 名患者接受 40 mg/kg/周。5 名患者为交叉反应性免疫材料 (CRIM) 阴性，20 毫克组中有 2 名，40 毫克组中有 3 名。我们比较了（无呼吸机）存活率、运动结果、输液相关反应 (IAR) 和抗体形成。从 2012 年起，40 mg 组中 >2 个月的患者还在酶替代疗法 (ERT) 初治环境中接受了利妥昔单抗、甲氨蝶呤和静脉注射免疫球蛋白 (IVIG) 的免疫调节。20 mg 组的存活率为 66%，40 mg 组为 92%。无呼吸机生存率分别为 50% 和 92%。20 mg 组中的两名 CRIM 阴性患者均死亡，而 40 mg 组中的三名患者均存活。在 20 毫克组中，67% 的人学会了走路，而在 40 毫克组中，这一比例为 92%。在 3 岁时，33% 和 92% 能够走路。20 mg 组的峰值抗体滴度范围为 1:1250 至 1:31 250，40 mg 组为 1:250 至 1:800 000。40 mg 组中的五名患者，其中两名 CRIM 阴性也接受了免疫调节。在最后一剂利妥昔单抗后 5.7 至 7.9 个月内观察到 B 细胞恢复。接受和未接受免疫调节的患者在 B 细胞恢复后的滴度相似（范围 1:6 250-1:800 000 和 1:250-1:781 250）。该研究表明，从开始到结束接受 40 mg/kg/周治疗的经典婴儿患者具有更好的（无呼吸机）存活率和运动结果。