Baxalta Innovations GmbH, Vienna, Austria.
Baxalta Innovations GmbH, Vienna, Austria.
J Thromb Haemost. 2023 Feb;21(2):269-275. doi: 10.1016/j.jtha.2022.10.016. Epub 2022 Dec 22.
Sickle cell disease (SCD) is an inherited red blood cell disorder with a causative substitution in the beta-globin gene that encodes beta-globin in hemoglobin. Furthermore, the ensuing vasculopathy in the microvasculature involves heightened endothelial cell adhesion, inflammation, and coagulopathy, all of which contribute to vaso-occlusive crisis (VOC) and the sequelae of SCD. In particular, dysregulation of the von Willebrand factor (VWF) and a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13 (ADAMTS13) axis has been implicated in human SCD pathology.
To investigate the beneficial potential of treatment with recombinant ADAMTS13 (rADAMTS13) to alleviate VOC.
Pharmacologic treatment with rADAMTS13 in vitro or in vivo was performed in a humanized mouse model of SCD that was exposed to hypoxia/reoxygenation stress as a model of VOC. Then, pharmacokinetic, pharmacodynamic, and behavioral analyses were performed.
Administration of rADAMTS13 to SCD mice dose-dependently increased plasma ADAMTS13 activity, reduced VWF activity/antigen ratios, and reduced baseline hemolysis (free hemoglobin and total bilirubin) within 24 hours. rADAMTS13 was administered in SCD mice, followed by hypoxia/reoxygenation stress, and reduced VWF activity/antigen ratios in parallel to significantly (p < .01) improved recovery during the reoxygenation phase. Consistent with the results in SCD mice, we demonstrate in a human in vitro system that treatment with rADAMTS13 counteracts the inhibitory activity of hemoglobin on the VWF/ADAMTS13-axis.
Collectively, our data provide evidence that relative ADAMTS13 insufficiency in SCD mice is corrected by pharmacologic treatment with rADAMTS13 and provides an effective disease-modifying approach in a human SCD mouse model.
镰状细胞病(SCD)是一种遗传性红细胞疾病,其致病原因是β珠蛋白基因中的β珠蛋白编码发生取代。此外,微血管中的血管病变涉及到内皮细胞黏附、炎症和凝血异常的加剧,所有这些都导致血管阻塞性危象(VOC)和 SCD 的后遗症。特别是,血管性血友病因子(VWF)和整合素金属蛋白酶与血小板反应蛋白 1 型基序 13(ADAMTS13)轴的失调已被牵连到人类 SCD 病理学中。
研究用重组 ADAMTS13(rADAMTS13)治疗以减轻 VOC 的潜在益处。
在缺氧/复氧应激作为 VOC 模型的 SCD 人源化小鼠模型中进行 rADAMTS13 的体外或体内药物治疗,然后进行药代动力学、药效学和行为分析。
rADAMTS13 给药剂量依赖性地增加 SCD 小鼠的血浆 ADAMTS13 活性,降低 VWF 活性/抗原比值,并在 24 小时内降低基线溶血(游离血红蛋白和总胆红素)。rADAMTS13 给药于 SCD 小鼠,然后进行缺氧/复氧应激,VWF 活性/抗原比值降低,与再氧化阶段的显著(p<.01)恢复平行。与 SCD 小鼠的结果一致,我们在人类体外系统中证明,用 rADAMTS13 治疗可对抗血红蛋白对 VWF/ADAMTS13 轴的抑制活性。
总的来说,我们的数据提供了证据,表明 SCD 小鼠相对 ADAMTS13 不足可通过用 rADAMTS13 进行药物治疗来纠正,并为 SCD 人类小鼠模型提供了一种有效的疾病修饰方法。