Barbon Elena, Ayme Gabriel, Mohamadi Amel, Ottavi Jean-François, Kawecki Charlotte, Casari Caterina, Verhenne Sebastien, Marmier Solenne, van Wittenberghe Laetitia, Charles Severine, Collaud Fanny, Denis Cecile V, Christophe Olivier D, Mingozzi Federico, Lenting Peter J
Genethon, Institut National de la Santé et de la Recherche Médicale U951 Integrare, Université Paris-Saclay, University of Evry, Evry, France.
HITh, UMR_S1176, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
EMBO Mol Med. 2020 Apr 7;12(4):e11298. doi: 10.15252/emmm.201911298. Epub 2020 Mar 11.
Novel therapies for hemophilia, including non-factor replacement and in vivo gene therapy, are showing promising results in the clinic, including for patients having a history of inhibitor development. Here, we propose a novel therapeutic approach for hemophilia based on llama-derived single-domain antibody fragments (sdAbs) able to restore hemostasis by inhibiting the antithrombin (AT) anticoagulant pathway. We demonstrated that sdAbs engineered in multivalent conformations were able to block efficiently AT activity in vitro, restoring the thrombin generation potential in FVIII-deficient plasma. When delivered as a protein to hemophilia A mice, a selected bi-paratopic sdAb significantly reduced the blood loss in a model of acute bleeding injury. We then packaged this sdAb in a hepatotropic AAV8 vector and tested its safety and efficacy profile in hemophilic mouse models. We show that the long-term expression of the bi-paratopic sdAb in the liver is safe and poorly immunogenic, and results in sustained correction of the bleeding phenotype in hemophilia A and B mice, even in the presence of inhibitory antibodies to the therapeutic clotting factor.
血友病的新型疗法,包括非因子替代疗法和体内基因疗法,在临床上正显示出有前景的结果,包括对有抑制剂产生史的患者。在此,我们提出一种基于骆驼来源的单域抗体片段(sdAbs)的血友病新型治疗方法,该片段能够通过抑制抗凝血酶(AT)抗凝途径来恢复止血功能。我们证明,以多价构象工程化的sdAbs能够在体外有效阻断AT活性,恢复FVIII缺陷血浆中的凝血酶生成潜力。当作为蛋白质递送至血友病A小鼠时,一种选定的双特异性sdAb在急性出血损伤模型中显著减少了失血量。然后,我们将这种sdAb包装在嗜肝性AAV8载体中,并在血友病小鼠模型中测试其安全性和疗效。我们表明,双特异性sdAb在肝脏中的长期表达是安全的,免疫原性低,并且即使在存在针对治疗性凝血因子的抑制性抗体的情况下,也能持续纠正血友病A和B小鼠的出血表型。