Indiana Hemophilia & Thrombosis Center, Inc., Indianapolis, Indiana, USA.
GLOVAL LLC, Broomfield, Colorado, USA.
Haemophilia. 2022 May;28 Suppl 4:77-92. doi: 10.1111/hae.14531.
Recent technological innovations in haemophilia have advanced at an astounding pace, including gene therapy programmes and bioengineered molecules for prophylaxis, products that reduce treatment burden through half-life extension, unique mechanisms of action, and subcutaneous administration. Additional technological advancements have emerged that are anticipated to further transform haemophilia care.
Review new and emerging haemophilia therapies, including replacement and bypassing products, digital applications, utilisation of big data, and personalised medicine.
Data were obtained from peer-reviewed presentations/publications, and ongoing studies in haemophilia, ultrasonography, and artificial intelligence (AI).
Available treatments include new recombinant factors VIII (FVIII) and IX (FIX), extended half-life FVIII/IX products, a new FVIIa product for inhibitor patients, and a FVIIIa-mimetic. Several novel therapeutics are in clinical trials, including FVIIIa mimetics and inhibitors of naturally-occurring anticoagulants. Ongoing gene therapy trials suggest that a single vector infusion using an optimised construct can produce factor activity that reduces bleeding to near zero for years. Today, persons with haemophilia (PwH) approach a lifespan comparable to that of the general population, presenting treatment challenges for age-related co-morbidities. Technological innovations have broadened beyond therapeutics to include large database analyses utilising remote data collection with handheld devices, and to tailor AI applications. Current development efforts include patient-performed ultrasonography, algorithms for scan interpretation, and point-of-care haemostatic testing devices.
We have entered a golden age for haemophilia treatment and care with wide-ranging advancements targeting improved quality of life (QoL). Future-focused efforts by clinical and patient communities may provide equitable access and care for people impacted by haemophilia worldwide.
血友病治疗领域的新技术创新步伐惊人，包括基因治疗项目和用于预防的生物工程分子、通过延长半衰期、独特的作用机制和皮下给药来减少治疗负担的产品。此外，还出现了其他技术进步，预计将进一步改变血友病的治疗方式。
综述新出现的血友病治疗方法，包括替代和旁路产品、数字应用、大数据利用和个性化医学。
数据来自血友病、超声和人工智能（AI）的同行评议演讲/出版物和正在进行的研究。
现有治疗方法包括新型重组凝血因子 VIII（FVIII）和 IX（FIX）、延长半衰期 FVIII/FIX 产品、新型用于抑制剂患者的 FVIIa 产品和 FVIIIa 模拟物。几种新型治疗方法正在临床试验中，包括 FVIIIa 模拟物和天然抗凝剂抑制剂。正在进行的基因治疗试验表明，使用优化构建体的单次载体输注可产生因子活性，使出血减少到接近零，持续数年。如今，血友病患者（PwH）的预期寿命与普通人群相当，这给与年龄相关的合并症的治疗带来了挑战。技术创新不仅拓宽了治疗范围，还包括利用手持设备进行远程数据收集的大型数据库分析，以及定制 AI 应用。目前的开发工作包括患者执行的超声检查、扫描解释算法和即时止血检测设备。
我们已经进入了血友病治疗和护理的黄金时代，广泛的进展旨在提高生活质量（QoL）。临床和患者社区的前瞻性努力可能会为全球受血友病影响的人群提供公平的获取和护理。
