| RGPC Community Call to Action Join Our Conversation: Improving Diagnosis & Support for Patients
Thursday, March 6th, 2025
12:30 p.m. PST • 3:30 p.m. EST • 8:30 p.m. GMT |
Over the past six years, our community has grown from a small group of 12 to more than 430 patients and families.
While this is a significant milestone, we estimate that at least 18,000 individuals in the U.S. alone may have RUNX1-FPD—meaning thousands remain undiagnosed or unaware of critical resources available to them.
One of our core initiatives is helping patients receive an accurate diagnosis sooner. According to RUNX1 Patient Data Hub data from November 2023, 50% of patients waited more than 10 years for a diagnosis. That’s too long. We want to change that. | |
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We also work to meet patients as early as possible after diagnosis, providing education, connection, resources, and support. But we need your help to improve these efforts and reach more individuals who could benefit from an earlier diagnosis and the support of this community. At our next Research Guided by Patients Committee (RGPC) meeting, we will focus on one key question: How can we help more RUNX1-FPD patients get diagnosed quickly and find the RUNX1 Research Program (RRP) sooner?
We’re calling on our community to share their experiences and ideas. Join the conversation to help us find solutions. We want to hear all different perspectives and ideas: -
Patients: How did you receive your RUNX1-FPD diagnosis? How could we have helped you find that diagnosis sooner? Find us sooner?
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Physicians & Genetic Counselors: What barriers exist in slowing and/or preventing a RUNX1-FPD diagnosis? What gaps exist, and how can we help?
If you can’t make it but have insights to share, please email Amanda Eggen at aeggen@runx1-fpd.org.
Your input is vital in helping us reach more patients, shorten diagnostic delays, and empower families with the information they need for an informed health journey.
Thank you for being part of this effort! If you are unable to attend this one, please consider joining us for upcoming meetings:
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We have important updates to share about two RUNX1-FPD clinical trials currently accepting participants*.
Even if you’re not ready to participate now, staying informed about ongoing clinical trials can help you make future decisions about your health. Research is constantly evolving, and these studies are key to advancing potential RUNX1-FPD treatments Stem Cell Harvesting & Banking Clinical Trial
New Location Added: Children’s Hospital of Philadelphia (CHOP) RRP is sponsoring a clinical trial to evaluate the safety and feasibility of collecting and banking blood stem cells from individuals with RUNX1-FPD. Originally based at MD Anderson Cancer Center (MDACC), this study is now also accepting participants at the Children’s Hospital of Philadelphia (CHOP). The study teams believe this procedure could benefit participating patients in the future, should gene-editing technology improve. With improved techniques, stored RUNX1-FPD stem cells could potentially be corrected and used to restore healthy blood cell function. See the updated one-page summary here: |
Imatinib Clinical Trial
Final In-Person Clinic Visit Now Optional
This Phase 1b trial is studying whether the drug imatinib can increase RUNX1 protein levels in individuals with RUNX1-FPD who have low levels of the RUNX1 protein. Researchers are working to determine the safest, most effective dose that can be comfortably tolerated. The goal of this study is to assess whether imatinib can improve blood system health and potentially reduce the risk of blood cancer. See the updated one-page summary here: |
*Important Note for International Patients:
Participation in these U.S.-based clinical trials may be complicated for international patients at this time, but please know that we are actively working to find solutions. If you are interested in learning more, please email Amanda Eggen.
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Introducing Our New Blog: RUNX1 Pulse |
We’re excited to introduce RUNX1 Pulse, a blog designed for our entire RUNX1-FPD community. Whether you’re a patient, family member, clinician, or researcher, RUNX1 Pulse provides insights, education, and updates to help you stay informed.
Check out our latest blog post by RRP’s Executive Director Dr. Katrin Ericson:
Sirolimus, Aging, and RUNX1-FPD: What We Can Learn from Anti-Aging Research
At the RUNX1 Research Program, we are dedicated to finding ways to prevent blood cancer in individuals with RUNX1-FPD. One promising avenue we are exploring is sirolimus. This drug has been used for years in organ transplantation and cancer treatment but is now gaining attention in the field of aging research. What if there was a way to slow down aging and delay the onset of age-related diseases like cancer, heart disease, and immune dysfunction? Scientists studying the biology of aging believe that sirolimus (also known as rapamycin) may hold the key to extending healthspan, the number of years we live in good health, alongside lifespan itself. Click below to continue reading: |
Would you like to contribute to the RUNX1 Pulse blog? If you’re interested in being a guest author, please contact Catherine Pelton at cpelton@runx1-fpd.org. | |
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Join Us for the First RUNX1 X-Change Meeting
Wednesday, March 12th
2:30 p.m. PDT • 5:30 p.m. EDT • 9:30 p.m. GMT |
We’re launching this new quarterly discussion series exclusively for the RUNX1-FPD patient community. Each session will focus on a specific topic related to living with RUNX1-FPD, with discussions led by Amanda Eggen and Katrin Ericson. The topic for our first session will be announced soon!
These sessions are designed to give patients a confidential, supportive space to connect, share experiences, and ask questions. This is an opportunity to be part of an open conversation where your voice and experiences matter. Whether you prefer to actively participate or just listen, we’d love for you to join us. We hope to see you at the first discussion! But if you can’t make it, please save the date for one of our future sessions: |
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Patients in the UK: Please Join Our Upcoming Informal Chat! Tuesday, 25th March, 2025
6:00 p.m. BST |
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Are you a RUNX1-FPD patient or family member in the United Kingdom? We invite you to join us for an informal online chat—a chance to connect, share experiences, and engage with others in the UK RUNX1-FPD community. This casual conversation is an opportunity to ask questions, exchange insights, and connect with others who understand the journey of living with RUNX1-FPD. Whether you're newly diagnosed or have been part of the community for years, we’d love for you to join us! |
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"Transcription Factor Associations Fine-Tune Expression of the RUNX1 Gene Network to Confer Regulatory Logic to Hematopoietic Gene Expression Programs” Tuesday, April 1st
11:00 a.m. PDT • 2:00 p.m. EDT • 7:00 p.m. BST |
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Join us for a research webinar with RRP grantee Dr. Kristy Stengel as she presents her team’s latest findings on lineage-specific transcription factors and their role in hematopoietic gene regulation.
Dr. Stengel and her team’s research used acute depletion of RUNX1 and nascent transcriptomics to define RUNX1-regulated gene targets and identify the enhancers responsible for this regulation, providing new insights into how transcription factors fine-tune blood cell development. |
"Hereditary Hematologic Malignancies: Not That Rare” Thursday, April 10th
8:00 a.m. PDT • 11:00 a.m. EDT • 4:00 p.m. BST |
Join us for a medical education webinar with Dr. Kelly Bolton where she will discuss the role of genetic testing in hereditary hematologic malignancies (HHMs) and its impact on patient outcomes.
Dr. Bolton will explore the prevalence of pathogenic germline variants, best practices for diagnosing and managing HHM patients, and the critical role of comprehensive genetic testing in improving treatment decisions—including selecting appropriate stem cell donors for transplantation—followed by an expert panel discussion. |
"Hematopoietic Stem Cell Division is Governed by Distinct RUNX1 Binding Partners” Tuesday, May 6th
11:00 a.m. PDT • 2:00 p.m. EDT • 7:00 p.m. BST |
Join RRP Scientific Advisory Board member, Dr. Leonard Zon as he presents his team’s latest discoveries on modulating RUNX1 to enhance hematopoietic stem cell (HSC) expansion in this RRP Research Webinar.
Dr. Zon’s research identifies a novel mechanism by which the RUNX1 inhibitor Ro5-3335 promotes HSC self-renewal and enhances clonal diversity by interacting with ELF1, revealing potential therapeutic strategies for improving blood system health. |
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"Revealing the Genetic Underpinnings of Cytopenias:
Navigating the Path to Genetic Testing"
In this webinar, medical geneticist Dr. Moon Ley Tung (University of Iowa) discussed the challenges and best practices in managing and diagnosing adult patients with cytopenias.
Dr. Tung shared unique patient cases to highlight key diagnostic clues that indicated the need for deeper analyses, including genetic testing.
Following the presentation, Dr. Sioban Keel (University of Washington Medical Center) offered some diagnostic pearls from her experience, and then Dr. Ilene Weitz (Keck-USC School of Medicine) joined Dr. Keel and Dr. Tung for an expert Q&A session.
This webinar was designed for classical hematologists, clinicians, fellows, trainees, and general family medicine practitioners interested in understanding inherited cytopenias, recognizing germline genetic conditions, and learning about diagnostic tools and patient care considerations. |
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Please support blood cancer prevention research and help find treatments for RUNX1-FPD patients. RRP commits 100% of direct donations to fund research and educational programs. Thank you! |
Thanks for following our progress and being a part of the RRP community!
Visit www.runx1-fpd.org to learn more and keep up-to-date between newsletters. |
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