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优化治疗结果:在接受酶替代疗法的庞培病患者中诱导免疫耐受性

Hui-An Chen^1,2,3, Rai-Hseng Hsu^1,2,3, Ching-Ya Fang²

¹Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

Frontiers in immunology

|May 8, 2024

概括

免疫耐受性诱导 (ITI) 疗法显著降低了庞培病患者的抗药抗体 (ADA) 水平,改善了治疗结果. 这种方法对于管理庞培病至关重要,当酶替代疗法 (ERT) 面临免疫性挑战时.

科学领域:

遗传学和基因组学遗传学和基因组学
免疫学免疫学免疫学
代谢障碍代谢障碍代谢障碍

背景情况:

庞培病是一种由酸α-葡萄糖酶 (GAA) 缺乏引起的溶酶体储存障碍,导致婴儿发病的庞培病 (IOPD) 和晚发病的庞培病 (LOPD).
使用复合人类GAA (rhGAA) 的酶替代疗法 (ERT) 是标准治疗方法,但可以引起抗药抗体 (ADA) 反应,从而影响疗效.
在交叉反应性免疫学物质 (CRIM) 阳性佩病患者中的高ADH水平需要替代策略来维持治疗效益.

研究的目的:

评估免疫耐受性诱导 (ITI) 治疗在庞培病患者高ADH水平和临床衰退的有效性.
评估ITI对ADA标位,生化标志物和IOPD和LOPD临床状态的影响.
为了确定ITI疗法的免疫耐受性和安全性概况的持久性.

主要方法:

进行了一项单中心,开放标签的前性研究,涉及8名庞培病患者 (5名IOPD,3名LOPD) 具有较高的ADA标位 (≥1:12,800).
ITI疗法包括博尔特佐米布,利图西马布,甲状腺和静脉注射免疫球蛋白,在六个月内给予.
在ITI前后对患者进行生物化学数据,ADA标位,免疫状况,呼吸和运动功能监测.

主要成果:

观察到中位数ADA标位的显著降低,在六个月的ITI后从1:12,800下降到1:1,600.
免疫耐受性在一些患者中持续长达4.5年,血清CK水平稳定或降低,尿液葡萄糖四糖水平维持在四名患者中.
没有发现呼吸或外行状态的显著恶化;不良事件仅限于两种可治疗的感染和短暂的胃肠道/神经系统症状.

结论:

ITI疗法有效降低高ADA标位的CRIM阳性佩病患者的ADA水平,改善治疗结果.
定期的ADA监测和及时的ITI启动对于管理佩病和减轻ERT免疫性至关重要.
建议对个性化免疫原性风险评估和进一步研究优化ITI策略,以加强佩病的管理.

关键词:

庞贝病是庞贝病的一种疾病.葡萄糖酶阿尔法酶的使用对抗药物抗体的抗体.酶替代疗法是一种酶替代疗法.免疫调节疗法是一种免疫调节疗法.

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