为社区主导的全国遗传性出血性疾病研究蓝图奠定基础：超罕见遗传性出血性疾病的研究重点。
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders.
机构信息
Center for Inherited Blood Disorders, Orange, California, USA.
Pediatric Hematology Division, Department of Pediatrics, University of California at Irvine, Children's Hospital of Orange County, Irvine, California, USA.
出版信息
Expert Rev Hematol. 2023 Mar;16(sup1):55-70. doi: 10.1080/17474086.2023.2175661.
BACKGROUND
Ultra-rare inherited bleeding disorders (BDs) present important challenges for generating a strong evidence foundation for optimal diagnosis and management. Without disorder-appropriate treatment, affected individuals potentially face life-threatening bleeding, delayed diagnosis, suboptimal management of invasive procedures, psychosocial distress, pain, and decreased quality-of-life.
RESEARCH DESIGN AND METHODS
The National Hemophilia Foundation (NHF) and the American Thrombosis and Hemostasis Network identified the priorities of people with inherited BDs and their caregivers, through extensive inclusive community consultations, to inform a blueprint for future decades of research. Multidisciplinary expert Working Group (WG) 3 distilled highly feasible transformative ultra-rare inherited BD research opportunities from the community-identified priorities.
RESULTS
WG3 identified three focus areas with the potential to advance the needs of all people with ultra-rare inherited BDs and scored the feasibility, impact, and risk of priority initiatives, including 13 in systems biology and mechanistic science; 2 in clinical research, data collection, and research infrastructure; and 5 in the regulatory process for novel therapeutics and required data collection.
CONCLUSIONS
Centralization and expansion of expertise and resources, flexible innovative research and regulatory approaches, and inclusion of all people with ultra-rare inherited BDs and their health care professionals will be essential to capitalize on the opportunities outlined herein.
背景
超罕见遗传性出血性疾病（BD）在为优化诊断和管理提供强有力的证据基础方面带来了重大挑战。如果没有适当的疾病治疗，受影响的个体可能面临危及生命的出血、延迟诊断、侵入性手术管理不当、心理社会困扰、疼痛和生活质量下降。
研究设计和方法
国家血友病基金会（NHF）和美国血栓与止血网络通过广泛的包容性社区咨询，确定了遗传性 BD 患者及其护理人员的优先事项，为未来几十年的研究制定了蓝图。多学科专家工作组（WG）3 从社区确定的优先事项中提炼出具有变革性的超罕见遗传性 BD 研究机会。
结果
WG3 确定了三个具有潜力的重点领域，可以满足所有超罕见遗传性 BD 患者的需求，并对优先计划的可行性、影响和风险进行了评分，其中包括 13 项系统生物学和机制科学；2 项临床研究、数据收集和研究基础设施；以及 5 项新型治疗药物的监管程序和所需的数据收集。
结论
集中和扩大专业知识和资源、灵活创新的研究和监管方法，以及纳入所有超罕见遗传性 BD 患者及其医疗保健专业人员，将是利用本文所述机会的关键。
Zotero 插件