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Santa Barbara, CA (May 1, 2019) - RUNX1 Research Program (RRP) announces its partnership with the National Institutes of Health (NIH) on a groundbreaking natural history study of patients with germline (inherited) RUNX1 mutations. Alex’s Lemonade Stand Foundation has funded research projects dedicated to this cause.
RUNX1-FPD is an under-diagnosed, rare familial platelet disorder which leads to ~50% lifetime risk of leukemia and lymphoma. The most common form of blood cancer patients develop is acute myeloid leukemia (AML), the second deadliest blood cancer. Diagnoses have recently increased due in part to increasing awareness of genetically-driven cancers and greater accessibility of genetic testing. Current estimates suggest there may be 20,000 RUNX1-FPD patients in the US alone, although limited data exists. Today’s clinical management protocols are institution-based, and cancer treatment typically includes allogeneic bone marrow transplants with poor prognoses.
The NIH RUNX1-FPD Clinical Research Study will see patients in Bethesda, MD, with all travel expenses paid. One of the core values of this study is that it will document in real time the genomic evolution of cancer in a highly predisposed population. It is known that in order for RUNX1-FPD patients to develop blood cancer they must acquire additional mutations in their blood. Tracking these mutations will help the field understand and differentiate mutations that are predictive of cancer onset and severity, and may inform treatment decisions. Furthermore, detailed reporting of patient signs and symptoms collected over time may also identify new predictive or prognostic biomarkers. Combining the analysis of both the genomic and clinical data may uncover key associations that could improve how the disease is diagnosed, detected, monitored, managed, treated and ultimately lead to new prevention strategies. More broadly, these results have the potential to influence our understanding of how cancers initiate, progress and evolve over time.
The RRP is the only advocacy and research foundation dedicated solely to RUNX1-FPD. It aims to recruit patients worldwide to the study. Founded in 2015 by patient-family Timothy and Monica Babich, the RRP aims to increase awareness of the disorder, connect and educate stakeholders, and fund innovative and translational research. In addition to its independent grant programs, the RRP has partnered with the Leukemia and Lymphoma Society (LLS) and Alex’s Lemonade Stand Foundation (ALSF) to award more than $4.5 million in grants.
Dr. Paul Liu, member of the RRP’s Scientific Advisory board, is an expert on leukemia genetics and will oversee its overall organization. He is the Deputy Scientific Director of the NIH’s NHGRI (National Human Genome Research Institute), and advocated for the creation of the Clinical Research Study within the NIH’s Intramural Research Program. As part of this study, an online data-sharing platform will be available to the worldwide research community.
The NIH Study holds the potential to change the course for a rare disease like RUNX1-FPD by providing valuable information to patients and their treating clinicians. Individuals with low platelet counts, a history of bleeding or bruising, and a family history of cancer, specifically blood cancer, are encouraged to learn more about the study. Individuals who have or have had blood cancer should consult with their doctors to inquire about whether they have a germline RUNX1 mutation. Given that RUNX1-FPD is a rare disorder, it is critical that as many patients participate as possible. Without this study, future clinical trials, testing much needed treatments, would be near impossible. Regulatory agencies, like the FDA, inquire about a natural history study prior to any clinical trials testing new treatment options.