Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders.
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders.
复制标题
为社区制定的遗传性出血性疾病国家研究蓝图奠定基础：超罕见遗传性出血性疾病的研究重点。
DOI：
10.1080/17474086.2023.2175661
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发表时间：
2023
影响因子：
2.8
通讯作者：
Peltier,Sky
中科院分区：
文献类型：
--
作者：
Nugent,Diane;Acharya,SuchitraS;Baumann,KimberlyJ;Bedrosian,Camille;Bialas,Rebecca;Brown,Kai;Corzo,Deya;Haidar,Amar;Hayward,CatherinePM;Marks,Peter;Menegatti,Marzia;Miller,MargaretE;Nammacher,Kate;Palla,Roberta;Peltier,Sky
研究背景：超罕见遗传性出血性疾病（BD）为最佳诊断和管理提供了强有力的证据基础，这是一个重要的挑战。如果没有疾病适当的治疗，受影响的个人可能面临危及生命的出血，延误诊断，侵入性手术的次优管理，心理社会困扰，疼痛和降低qualityoflife.Research design and methodsThe National Hemophilia Foundation（NHF）and the American Thrombosis and Hemostasis Network identified the priorities of people with hereditary BD and their carefulness，through widely included community consultation，为未来几十年的研究提供蓝图。多学科专家工作组（WG）3从社区确定的优先事项中提炼出高度可行的变革性超罕见遗传性BD研究机会。结果WG 3确定了三个重点领域，这些领域有可能促进所有超罕见遗传性BD患者的需求，并对优先举措的可行性、影响和风险进行了评分，其中包括系统生物学和机械科学领域的13个; 2.临床研究、数据收集和研究基础设施;和5在监管过程中的新疗法和所需的数据收集。结论集中和扩大专业知识和资源，灵活的创新研究和监管方法，包括所有患有超罕见遗传性BD的人及其医疗保健专业人员对于利用本文所述的机会至关重要。
BackgroundUltra-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 methodsThe 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.ResultsWG3 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.ConclusionsCentralization 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.