Montecito Residents Start Non-Profit
In late 2015, Montecito residents and Crane School parents Tim and Monica Babich founded the RUNX1 Research Program (RRP) to increase awareness of a rare, inherited blood disorder called RUNX1 Familial Platelet Disorder (RUNX1-FPD). The disorder affects generations in the Babich family, and predisposes patients to leukemia and lymphoma. “It’s an under-diagnosed, rare familial platelet disorder which leads to about a fifty percent lifetime risk of leukemia and lymphoma,” Monica told us during an interview last week. “It’s obviously close to our hearts, with my husband Tim and one of our sons having the gene mutations.”
The RRP is the only advocacy and research foundation dedicated to the disorder, and aims to increase awareness, connect stakeholders, and fund research towards finding a cure. Along with help from its Scientific Advisory Board, and long-standing partnerships with the Leukemia and Lymphoma Society (LLS) and Alex’s Lemonade Stand Foundation (ALSF), RRP has granted more than $4.5 million in grant monies to date, created a patient registry to better advocate for patients, and constructed a global team focused on the disorder. Last fall their annual conference was held at The Four Seasons Biltmore Hotel, and this month, they are announcing the launch of a groundbreaking natural history study for RUNX1-FPD patients worldwide via the National Institutes of Health (NIH). Monica says they hope to raise awareness of the existence of inherited blood cancer predisposition disorders and to recruit patients to the Study.
The newly launched NIH RUNX1-FPD Clinical Research Study will see patients in Bethesda, Maryland, with all travel expenses paid. One of the unique functions of this study is that it will document in real time the genomic evolution of the disorder to cancer in this highly predisposed population. In order for these patients to develop blood cancer, two to three more mutations must be acquired in their blood over their lifetime. Tracking these mutations will help the field understand and differentiate those that are predictive of cancer onset and severity, which will inform treatment decisions. “Combining the analysis of the genomic data with patient signs and symptoms may uncover key associations that could improve how the disease is diagnosed, detected, monitored, managed, treated, and ultimately lead to new prevention strategies,” Monica said. “These results have the potential to influence our understanding of how cancers initiate, progress, and evolve.”
The most common form of blood cancer patients develop is acute myeloid leukemia (AML), the second deadliest blood cancer. Diagnoses have increased recently due 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 U.S. 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. Patients live with lower platelet counts (thrombocytopenia) and functionally impaired platelets, causing excessive bleeding and bruising issues, and there is an established connection between the disorder and higher levels of systemic inflammation.
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, will inquire about a natural history study prior to any clinical trials testing new treatment options.
“I’m really proud of what we’ve done here. Even though our disorder is rare, our approach serves as a model for other inherited disorders, and serves to inform the larger understanding of cancer biology,” she said.
For more information, visit www.runx1-fpd.org. The non-profit’s offices are located in Santa Barbara at 800 Miramonte Drive.
