Bioverativ, a Sanofi company, Waltham, MA, USA.
Nat Rev Drug Discov. 2018 Jul;17(7):493-508. doi: 10.1038/nrd.2018.70. Epub 2018 Jun 8.
Haemophilia is a rare disease for which the approved therapeutic options have remained virtually unchanged for 50 years. In the past decade, however, there has been an explosion of innovation in the treatment options that are either in development or have been approved for haemophilia, including engineered clotting factors and an extensive pipeline of new approaches and modalities. Several of these new modalities, especially gene therapy, demonstrate proof of principle in haemophilia but could have broader applications. These advances, in combination with better diagnostics, are now enabling clinicians to improve the standard of care for people with haemophilia. The different mechanisms of action and modifications used in these therapies have implications for their safe and efficacious use, which must be balanced with their therapeutic utility. This Review focuses on the biological aspects of the most advanced and innovative approaches for haemophilia treatment and considers their future use.
血友病是一种罕见的疾病，其批准的治疗选择在过去 50 年中几乎没有变化。然而，在过去的十年中，治疗血友病的选择方案出现了爆炸式的创新，包括工程化凝血因子和广泛的新方法和模式。其中一些新方法，特别是基因疗法，在血友病中证明了其原理，但可能有更广泛的应用。这些进展，加上更好的诊断，现在使临床医生能够提高血友病患者的护理标准。这些疗法中使用的不同作用机制和修饰对其安全有效的使用有影响，必须在治疗效果方面进行平衡。这篇综述重点介绍了血友病治疗中最先进和创新方法的生物学方面，并考虑了它们的未来用途。
