The National Hemophilia Foundation (NHF) and the American Thrombosis and Hemostasis Network (ATHN) published a national research blueprint in Expert Review in Hematology with recommendations for future research opportunities to address the priorities of patients with ultra-rare bleeding disorders.

To develop the blueprint, the NHF and ATHN conducted community consultations to identify the priorities of people with ultra-rare bleeding disorders — diseases with an estimated prevalence of <1 per 50,000 persons — and their caregivers. These priorities were then translated by a multidisciplinary working group into feasible research opportunities.

The research opportunities were scored according to feasibility, impact on the target population, and risk.

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In addition, over 880 additional stakeholders, including lived experience experts (LEEs), physicians, researchers, multidisciplinary care team professionals, and federal and industry partners, participated in a Science Research Summit to discuss the state of the science in ultra-rare bleeding disorders to further help inform the blueprint.

Priorities of the ultra-rare bleeding disorder community comprised 3 domains: diagnostics, systems biology, mechanistic science; clinical, data collection, research infrastructure; and regulatory process for novel therapeutics and required data collection.

From this, there were 2 overarching priorities identified: multidisciplinary basic/translational research and multidisciplinary clinical studies/trials.

Within the basic and translational research priority, studies of the mechanisms of disease, diagnostics, including genetic testing and genomics/phenomics, and therapeutics were identified as research opportunities.

Clinical research opportunities included collecting natural history data across different races, genders, and lifespan, as well as including all severities, comorbidities, and age in studies. Defining clinical outcomes and endpoints specific to rare populations, disorder-specific and patient-centered outcomes, and post-licensure implementation of therapeutic regimens were also included. Finally, the use of a central laboratory to confirm the diagnosis was an identified priority.

The report outlines potential research questions within each overarching priority and elements/modalities that should be considered when designing a study or attempting to address a priority.

“The establishment of a research agenda for the coming decades is an opportunity to direct efforts into initiatives with the greatest potential to transform the experience of people with ultra-rare inherited bleeding disorders,” the authors concluded.

Disclosures: Some study authors declared affiliations with biotech, pharmaceutical, or device companies. Please see the original reference for a full list of disclosures.


Nugent D, Acharya SS, Baumann KJ, et al. Building the foundation for a community generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders. Exp Rev Hematol. 2023;16(suppl 1):55-70. doi: 10.1080/17474086.2023.2175661