Bloodworks Northwest, Seattle, Washington.
Department of Medicine, University of Washington, Seattle, Washington.
Haemophilia. 2019 Jul;25(4):590-594. doi: 10.1111/hae.13772.
A devastating complication of hemophilia A, the congenital deficiency of coagulation factor VIII (FVIII), therapy is the development of inhibitory antibodies (inhibitors) to infused FVIII concentrate affecting up to 30% of people with the most severe form of the disease. Although the number of patients affected by hemophilia A with inhibitors is small, the physical, emotional, financial, and public health impact is overwhelming to the patient, family, and medical system. To best serve this patient population, as well as enhance knowledge around this complication, a robust data and specimen collection strategy must be designed.
Working Group 2 (WG2) of the National Heart, Lung, and Blood Institute (NHLBI)- sponsored State of the Science (SOS) workshop on factor VIII inhibitors in 2018 was tasked with developing recommendations around the conduct of research, modeling efficient data and specimen collection, developing infrastructure support, establishing partnerships with all stakeholders, including international collaborators, addressing ethical issues, maximizing patient/family engagement and promoting training opportunities.
A group with diverse expertise was assembled who reviewed the current state of data and specimen collection in patients with hemophilia and developed recommendations for the future.
Our results were presented at the SOS Workshop where additional feedback was gained.
Our charge and recommendations are summarized in this manuscript.
血友病 A 是一种严重的并发症，这种疾病是凝血因子 VIII（FVIII）的先天性缺乏，其治疗方法是输注 FVIII 浓缩物后会产生抑制性抗体（抑制剂），这会影响多达 30%的最严重疾病患者。尽管患有血友病 A 伴抑制剂的患者人数较少，但这种疾病对患者、家庭和医疗系统在身体、情感、经济和公共卫生方面造成的影响是压倒性的。为了更好地为这一患者群体服务，并增强对这一并发症的认识，必须设计一个强大的数据和标本采集策略。
2018 年，美国国立心肺血液研究所（NHLBI）主办的因子 VIII 抑制剂状态科学（SOS）研讨会第 2 工作组（WG2）的任务是就研究开展、有效数据和标本采集、基础设施支持、与所有利益相关者（包括国际合作者）建立合作伙伴关系、解决伦理问题、最大限度地提高患者/家庭参与度和促进培训机会等方面提出建议。
召集了一组具有不同专业知识的人员，他们审查了目前血友病患者的数据和标本采集情况，并为未来提出了建议。
我们的研究结果在 SOS 研讨会上进行了介绍，并获得了更多的反馈。
我们的任务和建议总结在本文中。
