National Hemophilia Foundation Champions a National Research Blueprint Defining a Community-Coordinated Research Ecosystem to Accelerate Progress in Inherited Bleeding Disorders

Background: With the recent advent of novel technologies, therapeutics and genetic medicine, we have a powerful opportunity to accelerate inherited bleeding disorders (IBD) research momentum in areas that urgently need attention, specifically in rare disorders, women with bleeding disorders and underserved populations. A comprehensive, cross-community initiative spearheaded by the National Hemophilia Foundation (NHF) aims to deliver a National Research Blueprint (NRB) to foster accessible and high-impact research for people with IBDs. Working together with multi-disciplinary and multi-stakeholder groups as part of the State of the Science (SOS) Research Summit in September 2021, the effort has already made considerable progress in identifying areas that most urgently require attention today and opportunities to make the greatest impact for the future. (Valentino, Haemophilia, 2022.) (See Table 1) Now, a series of NRB working groups (WGs) has been established and charged with defining the necessary components to launch, sustain and expand a community-focused research network to accomplish these goals. (See Figure 1)

Methods: The NRB effort is defining critical components of a collaborative IBD national research network, considering the stakeholders to be involved, the resources necessary, the processes and the systems that will guide productive research. Given the rare nature of most IBDs, this network must be not only sustainable, flexible and adaptable, but also uniquely accessible and partnership-oriented to effectively engage communities locally, building upon the models in place today through local and regional Hemophilia Treatment Center (HTC) networks, and coordinated through centralized research mechanisms.

Based on the insights generated during the SOS, NHF has now convened seven multi-disciplinary NRB WGs, each charged with addressing critical questions in the formation of this network:

• R&D: What basic, translational, clinical, implementation and outcomes research should the national IBD research network either initiate or prioritize for development?

• Workforce: What are the strengths and needs for skill development to be successful and how can this network support career development?

• Infrastructure: What infrastructure elements must be prioritized to support research and workforce development activities? How will the infrastructure be sustainable?

• HEDI: What health equity, diversity, and inclusion (HEDI) principles must be embedded in the network and how should they be integrated and employed over time?

• SME: How can an effective research culture be fostered among patients, caregivers and family members and how can we ensure sustainable subject matter expert (SME) input at every level to inform research strategy?

• Policy: What are the essential elements of or necessary changes in research policy to facilitate research priorities, infrastructure and workforce development?

• Community Engagement: How can we help establish an active research culture across the community? What are the best communication, education and acculturation strategies to facilitate enthusiastic participation?

Results: A wide range of researchers, clinicians, patients and caregivers, non-profit and government leaders, and industry are contributing to the NRB network implementation plan. By 2023, NHF aims to deliver the blueprint to establish a community-integrated research enterprise that will not only help to coordinate research efforts in the areas that matter most for patients, but also foster a greater culture of research and inclusivity across the community to continually fuel progress.

Conclusion: The ultimate ambition of the NRB is to prioritize and accelerate research in partnership with a diverse and fully engaged patient community. The NRB efforts will deliver a collaborative research infrastructure and workforce capable of conducting this research expertly, equitably, efficiently and expeditiously, supported by the right research policies and the right processes to both communicate research results and translate them into a progressively evidence-based and universally accessible standard of care. This NRB effort, driven by,for, and with the IBD community, has potential to redefine the IBD landscape for the benefit of everyone.

Witkop:National Hemophilia Foundation: Current Employment. Santaella:National Hemophilia Foundation: Current Employment. Recht:Foundation for Women and Girls with Blood Disorders; Partners in Bleeding Disorders: Thrombosis and Hemostasis Societies of North America: Membership on an entity's Board of Directors or advisory committees; Bayer, Biomarin, CSL Behring, Genentech, Grifols, Hema Biologics, LFB, Novo Nordisk, Octapharma, Pfizer, Sanofi, Spark Therapeutics, Takeda, uniQure: Research Funding; Catalyst Biosciences, CSL Behring, Genentech, Grifols, Hema Biologics, Novo Nordisk, Pfizer, Sanofi, Takeda, uniQure: Consultancy; American Thrombosis and Hemostasis Network; Yale University School of Medicine: Current Employment; Oregon Health & Science University: Ended employment in the past 24 months. Norris:National Hemophilia Foundation: Current Employment. Spitale:National Hemophilia Foundation: Current Employment. DiMichele:National Hemophilia Foundation: Consultancy. Mills:National Hemophilia Foundation: Current Employment.