Ozelo Margareth C, Yamaguti-Hayakawa Gabriela G
Hemocentro UNICAMP University of Campinas Campinas Brazil.
Department of Internal Medicine School of Medical Sciences University of Campinas UNICAMP Campinas Brazil.
Res Pract Thromb Haemost. 2022 Apr 12;6(3):e12695. doi: 10.1002/rth2.12695. eCollection 2022 Mar.
Hemophilia A and B are hereditary bleeding disorders, characterized by factor VIII or IX deficiencies, respectively. For many decades, prophylaxis with coagulation factor concentrates (replacement therapy) was the standard-of-care approach in hemophilia. Since the 1950s, when prophylaxis started, factor concentrates have been improved with virus inactivation and molecule modification to extend its half-life. The past years have brought an intense revolution in hemophilia care, with the development of nonfactor therapy and gene therapy. Emicizumab is the first and only nonreplacement agent to be licensed for prophylaxis in people with hemophilia A, and real-world data show similar efficacy and safety from the pivotal studies. Other nonreplacement agents and gene therapy have ongoing studies with promising results. Innovative approaches, like subcutaneous factor VIII and lipid nanoparticles, are in the preclinical phase. These novel agents, such as extended half-life concentrates and emicizumab, have been available in resource-constrained countries through the constant efforts of the World Federation of Haemophilia Humanitarian Aid Program. Despite the wide range of new approaches and therapies, the main challenge remains the same: to guarantee treatment for all. In this article, we discuss the evolution of hemophilia care, global access to hemophilia treatment, and the current and future strategies that are now under development. Finally, we summarize relevant new data on this topic presented at the ISTH 2021 virtual congress.
甲型和乙型血友病是遗传性出血性疾病，分别以因子 VIII 或 IX 缺乏为特征。几十年来，使用凝血因子浓缩物进行预防（替代疗法）一直是血友病的标准治疗方法。自 20 世纪 50 年代开始预防以来，因子浓缩物通过病毒灭活和分子修饰得到了改进，以延长其半衰期。过去几年，随着非因子疗法和基因疗法的发展，血友病治疗发生了一场激烈的变革。艾美赛珠单抗是首个也是唯一一个被批准用于甲型血友病患者预防的非替代药物，真实世界数据显示其疗效和安全性与关键研究相似。其他非替代药物和基因疗法正在进行的研究也取得了令人鼓舞的结果。创新方法，如皮下注射因子 VIII 和脂质纳米颗粒，正处于临床前阶段。通过世界血友病联盟人道主义援助计划的不懈努力，这些新型药物，如延长半衰期的浓缩物和艾美赛珠单抗，已在资源有限的国家可用。尽管有各种各样的新方法和疗法，但主要挑战仍然相同：确保为所有人提供治疗。在本文中，我们讨论了血友病治疗的演变、全球血友病治疗的可及性以及目前正在开发的当前和未来策略。最后，我们总结了在 2021 年国际血栓与止血学会虚拟大会上展示的关于该主题的相关新数据。
