RUNX1 familial platelet disorder (RUNX1-FPD) with predisposition to hematologic malignancy (also referred to as FPDMM or FPD/AML) is a rare, monogenic disorder caused by germline mutations in the RUNX1 gene. Many patients are left undiagnosed and/or misdiagnosed for years, despite numerous physician visits and tests. Currently, RUNX1-FPD research is being defined by researchers with a limited patient voice. Silos exist between patients, clinicians, and researchers, creating barriers to effectively achieving patient-centered research today and in the future. The biggest barrier to integrating the patient voice is the lack of an organized RUNX1-FPD patient and partner stakeholder community.
The RUNX1 Research Program (RRP), a patient-led nonprofit organization, is focused on supporting patients with RUNX1-FPD by empowering the patient community’s voice and funding world-class research to prevent cancer. Since its inception four years ago, RRP has seen the patient community grow significantly and is now poised to build an infrastructure that enables this population to convey their collective lived experience and expertise and serve as true partners in comparative clinical effectiveness research and patient-centered outcomes research (CER/PCOR).
Together with CER/PCOR experts, RRP will build and train a diverse multi-stakeholder community of patients, clinicians, and researchers, empowered with fundamental tools and a framework on how to effectively engage and partner in CER/PCOR research. The committee will be called the Research Guided by Patients (RGP). RRP will leverage the training curriculum that was developed by a PCORI-funded project for rare disease-focused advocacy organizations to effectively partner with patients and caregivers in research development. RRP will form the RGP, evaluate the committee’s values and educational needs to tailor and enhance the CER/PCOR competency training plan, build the curriculum and evaluation tools, and implement the training. The curriculum will then be refined based on evaluation results and deployed for new RGP member training and online sharing. RRP will also support RGP members in becoming ambassadors of CER/PCOR values.
The ultimate outcome of this initiative will be the establishment of the first-ever RUNX1-FPD committee of patients, clinicians, and researchers highly prepared to partner and co-design CER/PCOR studies. This project will build end-user CER/PCOR capacity and test learning through engaging with an existing RUNX1-FPD research project as a case study to solidify learning concepts. In addition, the project will result in CER/PCOR ambassadors empowered to propagate the value of CER/PCOR in their communities. A white paper and online training curriculum will be widely disseminated to serve as resources for other rare-disease fields in embarking on developing their own CER/PCOR multi-stakeholder communities.
Project collaborators include: Eleanor Perfetto, PhD, and Elisabeth Oehrlein, PhD, of the National Health Council, and Liz Jacobs, MD, of the University of Texas at Austin’s Dell Medical School.
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Project Resource: Engagement Plan