Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities to transform the care of people with hemophilia

Duc Q. Tran, Craig C. Benson, Judith A. Boice, Meera Chitlur, Amy L. Dunn, Miguel A. Escobar, Kalpna Gupta, Jill M. Johnsen, James Jorgenson, Scott D. Martin, Suzanne Martin, Shannon L. Meeks, Alfredo A. Narvaez, Doris V. Quon, Mark T. Reding, Ulrike M. Reiss, Brittany Savage, Kim Schafer, Bruno Steiner, Courtney ThornburgLena M. Volland, Annette von Drygalski

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Background: Decades of research have transformed hemophilia from severely limiting children’s lives to a manageable disorder compatible with a full, active life, for many in high-income countries. The direction of future research will determine whether exciting developments truly advance health equity for all people with hemophilia (PWH). National Hemophilia Foundation (NHF) and American Thrombosis and Hemostasis Network conducted extensive inclusive all-stakeholder consultations to identify the priorities of people with inherited bleeding disorders and those who care for them. Research design and methods: Working group (WG) 1 of the NHF State of the Science Research Summit distilled the community-identified priorities for hemophilia A and B into concrete research questions and scored their feasibility, impact, and risk. Results: WG1 defined 63 top priority research questions concerning arthropathy/pain/bone health, inhibitors, diagnostics, gene therapy, the pediatric to adult transition of care, disparities faced by the community, and cardiovascular disease. This research has the potential to empower PWH to thrive despite lifelong comorbidities and achieve new standards of wellbeing, including psychosocial. Conclusions: Collaborative research and care delivery will be key to capitalizing on current and horizon treatments and harnessing technical advances to improve diagnostics and testing, to advance health equity for all PWH.

Original languageEnglish (US)
Pages (from-to)19-37
Number of pages19
JournalExpert Review of Hematology
Volume16
Issue numbersup1
DOIs
StatePublished - 2023

Bibliographical note

Funding Information:
The entire State of the Science Research Summit and this manuscript were funded by National Hemophilia Foundation. Research reported in this publication was supported by the National Heart, Lung, And Blood Institute of the National Institutes of Health under Award Number R13HL158209. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The Executive Committee of the National Hemophilia Foundation (NHF) National Research Blueprint initiative were actively engaged in the conception, design, preparation, and oversight of each of the State of the Science manuscripts in this supplement. Maria E. Santaella actively engaged with the lived experience expert (LEE) WG members throughout the process, empowering their inclusion and participation. The Executive Committee consisted of: Kevin Mills, Michael Recht, Michelle L. Witkop, Maria E. Santaella, Donna DiMichele, Keri L. Norris, Esmeralda Vázquez and Brett Spitale. The authors thank Kevin Mills, PhD for his review of the manuscript. Fiona Robinson, PhD provided professional medical writing support during manuscript development; medical illustrations were created by Matt Evans; both paid by NHF.

Publisher Copyright:
© 2023 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.

Keywords

  • Community
  • National Hemophilia Foundation
  • hemophilia
  • inherited bleeding disorders
  • patient-centered
  • research

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