背景:基于腺相关病毒(AAV)的血友病基因治疗在过去13年中取得了实质性进展;最近,三款产品已获得监管机构的批准。尽管对生活质量的影响似乎很有希望,仍然存在一些限制,例如预先存在的抗AAV中和抗体的存在和肝毒性的发生。这项审查是在欧洲血液学协会(EHA)2022第27届大会上由CSLBehring赞助的研讨会之后进行的,该研讨会从360度多学科的角度审查了血友病基因治疗过程。这里,教员(血液学家,护士和血友病患者)从研讨会上总结了他们自己的观点,为了强调有效参与基因治疗所需的关键考虑因素,对于患者和提供者来说,以及多学科合作的重要性,包括工业。
结果:在考虑这些新疗法时,患者面临复杂的决策过程,其中包括基因疗法是否适合他们目前的生活阶段。作者一致认为,跨多学科团队(包括患者及其护理人员/家属)的协作和量身定制的教育,从早期开始,并在整个长期随访期间持续进行,是基因治疗成功的关键.此外,病人的期望,这可能围绕着资格,随访要求和治疗结果,应该不断探索。在这些持续的讨论中,对未知因素的透明沟通,如预期的凝血因子水平,长期因素表达和安全性,和心理变化,是至关重要的。确保效率和全面性,明确定义的协议应该概述整个过程,其中应包括长期影响的记录和管理。
结论:为了有效地参与,在参与血友病基因治疗之前,患者和提供者都应该熟悉这些关键考虑因素.血友病基因疗法获得批准后的未来仍有待观察,现实世界的证据正在热切期待。
BACKGROUND: Adeno-associated virus (AAV)-based gene therapy for
haemophilia has advanced substantially in the last 13 years; recently, three products have received approvals from regulatory authorities. Although the impact on quality of life seems promising, some limitations remain, such as the presence of pre-existing anti-AAV neutralising antibodies and the occurrence of hepatotoxicity. This review follows the CSL Behring-sponsored symposium at the 27th Congress of the European Hematology Association (EHA) 2022 that examined the
haemophilia gene therapy process from a 360-degree multidisciplinary perspective. Here, the faculty (haematologist, nurse and
haemophilia patient) summarised their own viewpoints from the symposium, with the aim of highlighting the key considerations required to engage with gene therapy effectively, for both patients and providers, as well as the importance of multidisciplinary collaboration, including with industry.
RESULTS: When considering these new therapies, patients face a complex decision-making process, which includes whether gene therapy is right for them at their current stage of life. The authors agreed that collaboration and tailored education across the multidisciplinary team (including patients and their carers/families), starting early in the process and continuing throughout the long-term follow-up period, is key for the success of gene therapy. Additionally, patient expectations, which may surround eligibility, follow-up requirements and treatment outcomes, should be continually explored. During these ongoing discussions, transparent communication of the unknown factors, such as anticipated clotting factor levels, long-term factor expression and safety, and psychological changes, is critical. To ensure efficiency and comprehensiveness, clearly‑defined protocols should outline the whole process, which should include the recording and management of long-term effects.
CONCLUSIONS: In order to engage effectively, both patients and providers should be familiar with these key considerations prior to their involvement with the
haemophilia gene therapy process. The future after the approval of
haemophilia gene therapies remains to be seen and real-world evidence is eagerly awaited.