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在护士治疗下的Fabry患者中的生物化学可靠性-如何以及何时进行测试?

Malte Lenders¹, Elise Raphaela Menke², Eva Brand²

¹Internal Medicine D (Nephrology, Hypertension and Rheumatology), and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149, Muenster, Germany. Malte.Lenders@ukmuenster.de.

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

|September 29, 2024

概括

对于接受米加拉斯塔特治疗的法布里病患者,从外周血液单核细胞 (PBMC) 测量24小时后的α-银酸酶A (AGAL) 活性可以提高准确性. 这种时间和方法最大限度地减少了竞争性AGAL抑制剂米加拉斯塔的干扰.

科学领域:

生物化学生物化学
药理学药理学是指药理学的学科.
遗传学是一个遗传学.

背景情况:

目前的法布里病管理包括监测α-galactosidase A (AGAL) 活性,以评估对migalastat的生物化学反应.
治疗米格拉沙特患者的AGAL活性测量实验室结果的差异需要进一步调查.
干血斑点 (DBS) 测定AGAL活性可能不准确地反映因米加拉斯塔干扰而导致的酶增加.

研究的目的:

为了调查干血斑 (DBS) 试验失败背后的原因,检测米加拉斯塔特诱导的α-银酸酶A (AGAL) 活性增加.
确定在接受米加拉斯塔特治疗的患者中测量AGAL活性的最佳时间点.
为了评估米加拉斯塔特的药理动力学特征对AGAL活性测试的影响.

主要方法:

招募了43名患有法布里病的患者 (58次访问),正在接受米加拉斯塔治疗.
在干血斑 (DBS) 和外周血液单核细胞 (PBMCs) 中测量了酶性AGAL活性.
量化血清米加拉斯塔度以确定Cmax和血清半衰期,与血液采样时间相关联.

主要成果:

基于DBS的AGAL活动测量的很大一部分 (42.0%) 低于检测极限.
治疗米格拉沙特的患者的血清AGAL活性显示出显著的抑制,这取决于服用后的时间 (r2 = 0.8140,p < 0.0001).
在米加拉斯塔特给药24小时后收集的DBS和PBMC中,酶性AGAL活性显着更高 (p <0.05).

结论:

在接受米格拉沙特治疗的患者中测量酶性AGAL活性的最佳时间是最后一剂剂后24小时.
对于AGAL活性测量,建议使用外周血液单核细胞 (PBMC),以最大限度地减少竞争性抑制剂米加拉沙特的干扰.
精确的生化监测对于评估法布里病治疗疗效至关重要.

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