Building the Foundation for a Community-Generated National Research Blueprint for Inherited Bleeding Disorders: Research Priorities for Ultra-Rare Inherited Bleeding Disorders

Duc Q. Tran, Craig C. Benson，Lena M. Volland,Annette von Drygalski

Expert Review of Hematology（2023）

Cited 9|Views52

Abstract

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.

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Hemophilia

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Pretraining has recently greatly promoted the development of natural language processing (NLP)
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