Eladnani Raja Prince, Schaeper Ute, Diab Rim, Aretz Julia, Vrotniakaite-Bajerciene Kristina, Çaku Sara, Yasmin Rafika, Li Bojun, Reina Caro Maria Desiré, Dames Sibylle, Eisermann Mona, Löffler Kathrin, Martinez Alberto, de Laat Bas, Brodard Justine, Casini Alessandro, Kremer Hovinga Johanna A, Allam Ramanjaneyulu, Fernández José A, Griffin John H, Laffan Mike A, Majumder Rinku, Ahnström Josefin, Angelillo-Scherrer Anne
Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Department for BioMedical Research, University of Bern, Bern, Switzerland.
Silence Therapeutics GmbH, Berlin, Germany.
J Thromb Haemost. 2025 Jul;23(7):2133-2150. doi: 10.1016/j.jtha.2025.03.021. Epub 2025 Mar 26.
One hemophilia treatment concept focuses on rebalancing coagulation and anticoagulation to restore normal blood clotting. Targeting the coagulation regulator, protein S (PS), in hemophilia shows promise to increase the generation of thrombin, a critical enzyme in the clotting process.
This study aimed to: (1) assess whether inhibiting PS increases thrombin generation (TG) in plasma from individuals with hemophilia A (HA) and B (HB); and (2) develop a hepatocyte-targeted PS small interfering RNA (siRNA) therapy using N-acetylgalactosamine conjugation to restore hemostasis in hemophilia without increasing thromboembolic risks.
We assessed TG in plasma from patients with HA and HB. To target the liver specifically, we developed a PS-siRNA conjugated with N-acetylgalactosamine. This approach ensures that PS levels remain adequate in other cells, thereby minimizing the risk of thrombosis. Additionally, we evaluated the therapeutic potential of PS-siRNA in preclinical models.
Inhibiting PS with a polyclonal antibody in plasma resulted in a 3- to 5-fold increase in TG in HA and a 4- to 9-fold increase in HB plasma, with a 70% reduction in plasma PS. In preclinical models, subcutaneous PS-siRNA therapy in HA mice and nonhuman primates successfully lowered PS levels and improved clot formation. It also prevented bleeding in both saphenous vein puncture and knee injury models in HA mice. Notably, it enhanced clotting without triggering widespread clot formation.
Reducing PS levels enhances TG in hemophilia models, and PS-siRNA therapy shows promise in improving hemostasis. This approach warrants further clinical investigation as a potential treatment for hemophilia.
一种血友病治疗理念聚焦于重新平衡凝血与抗凝机制以恢复正常血液凝固。在血友病中靶向凝血调节因子蛋白S(PS)有望增加凝血酶的生成,凝血酶是凝血过程中的关键酶。
本研究旨在:(1)评估抑制PS是否会增加甲型血友病(HA)和乙型血友病(HB)患者血浆中的凝血酶生成(TG);(2)开发一种使用N - 乙酰半乳糖胺偶联的肝细胞靶向PS小干扰RNA(siRNA)疗法,以在不增加血栓栓塞风险的情况下恢复血友病患者的止血功能。
我们评估了HA和HB患者血浆中的TG。为了特异性靶向肝脏,我们开发了一种与N - 乙酰半乳糖胺偶联的PS - siRNA。这种方法可确保其他细胞中的PS水平保持充足,从而将血栓形成风险降至最低。此外,我们在临床前模型中评估了PS - siRNA的治疗潜力。
用多克隆抗体在血浆中抑制PS导致HA患者血浆中的TG增加3至5倍,HB患者血浆中的TG增加4至9倍,血浆PS降低70%。在临床前模型中,对HA小鼠和非人灵长类动物进行皮下PS - siRNA治疗成功降低了PS水平并改善了血栓形成。它还预防了HA小鼠大隐静脉穿刺和膝关节损伤模型中的出血。值得注意的是,它增强了凝血功能而未引发广泛的血栓形成。
降低PS水平可增强血友病模型中的TG,并且PS - siRNA疗法在改善止血方面显示出前景。作为血友病的一种潜在治疗方法,这种方法值得进一步的临床研究。