A Note to RUNX1 Patients: New Clinical Trials Offer Hope and Opportunity
By Dr. Amanda Eggen
As a patient advocate with the RUNX1 Research Program, I have had the privilege of connecting with many individuals with RUNX1 Familial Platelet Disorder (RUNX1-FPD). Through countless impactful conversations, I have heard about the unique challenges that come with this disorder.
Some of you and your children experience frequent bleeding, bruising, and related gastrointestinal or allergic conditions, while others face few daily health issues.
The most common experience shared is a persistent sense of worry and helplessness about the increased risk of developing blood cancers like AML (acute myeloid leukemia) and MDS (myelodysplastic syndromes).
Many of you fear for yourselves, and many of you feel powerless worrying about your children and grandchildren. As a social psychologist, a parent of a young son, and someone who has lost a parent to cancer, I understand the instinct to push these worries out of mind. Sometimes, it is imperative that we pause and set our concerns for the future aside to truly be present and savor the beautiful moments life brings.
One of my main goals is to help support patients in managing their worries and stressors in order to help facilitate these moments of peace and appreciation. Another major goal of mine becomes even more urgent when I hear from a patient who has just been diagnosed with AML and whose treatment isn’t working. Or a grandparent who tells me their young grandson needs a stem cell transplant because of MDS.
These moments are powerful reminders that I must do more than offer emotional support—I must also help guide efforts to shape a better future for our patient community.
"The essence of my family's experience with leukemia, including my own, is that the standard treatments - chemo and stem cell transplant - do not work.
At best, there's been temporary remission, but untreatable bone marrow failure and short life expectancy have been the overall result.
It's as if the germline variants that run in my family have created a disease altogether different from somatic leukemia, and therefore needs radically different treatment.
Clinical trials on germline patients are essential.”
~ Virginia, RUNX1-FPD Patient
Community members like Virginia remind me that I must not only support patients in managing the stress that comes with an uncertain future–through learning things like mindfulness and calming techniques–but also help spread the word about opportunities to take control and make that future more certain.
Clinical trials offer patients such an opportunity to take action and shape the future of health for yourself, your children, and future generations.
They bring the possibility of a world where no one has to experience the fear of blood cancer due to a RUNX1 mutation they were born with. Perhaps even a future without bruising, bleeding, chronic joint pain, allergies, or the constant need to advocate for recognition of this rare but wide-reaching condition.
Your involvement could help bring us closer to a world where blood cancer risk is no longer a constant worry.
That is why I want to share some key information about clinical trials: what they are, and why they matter for the RUNX1-FPD community. I hope this provides a sense of optimism and a glimpse of a future with fewer uncertainties. If you’re eligible, I encourage you to consider participating.
Click on each topic heading below to learn more:
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Clinical trials are research studies that test new treatments or approaches to care in humans. Before these treatments reach clinical trials, they go through years of research in laboratories, including studies on cells, fish, and mice that have been genetically modified to mimic conditions like RUNX1-FPD.
While these early studies show promise, treatments must be tested in humans to ensure they are both effective and safe, with minimal side effects.
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For any clinical trial to succeed, researchers need enough participants to gather reliable data on how a treatment affects the body. All scientific findings rely on averages, meaning that the more people who participate, the more confident researchers can be that the results truly reflect the broader RUNX1-FPD community.
Because RUNX1-FPD is a rare disorder, recruiting enough participants can be a challenge. However, every participant plays a critical role in advancing potential treatments. Clinical trials give our community access to promising therapies while also pushing forward research that could benefit everyone with this condition.
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To make these treatments widely available to RUNX1-FPD patients, multiple phases of clinical trials are required. As trials progress, they involve increasing numbers of participants to confirm effectiveness and safety. Once enough data has been collected, governing organizations like the Food and Drug Administration (FDA) in the United States review the findings to determine whether the treatment should be approved for widespread use.
The treatments currently being tested in RUNX1-FPD trials have already been proven safe and effective for other conditions, meaning the FDA has already approved them and the medicines are available at the pharmacy. These trials focus on ensuring they work specifically for our community.
For a clear, easy-to-understand explanation of how clinical trials generally work, I recommend watching this short video* created by the Mayo Clinic.
*Note that the current trials currently available for the RUNX1-FPD community may not require all of these steps given they focus on treatments that have already been approved for other diseases.
New Clinical Trials for RUNX1-FPD
Currently, three clinical trials are available for individuals with RUNX1-FPD. These studies focus on treatments that have shown promise in both laboratory research and in practice with people who have other disorders and diseases. Right now, these trials are considered early phase trials, meaning their primary goal is to establish safe dosages and assess safety.
The secondary goal is to test efficacy, meaning whether the treatments improve the health of RUNX1-FPD individuals. Once the early phase trials complete and if the results from those studies show that first the treatments are safe and second, that there is some evidence the treatments are working, then it makes sense to start a larger trial.
Larger trials increase the number of participants and enable scientists to use statistics that can define how well a treatment is working. The hope is that the results from a larger trial would inform YOU, the patient community, and the medical community on whether the treatment could improve your health and reduce your risk of blood cancer.
Click on a heading below to open a brief overview of each study, including a link to a printable trial summary:
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This early phase trial is testing whether Sirolimus, a drug already used for other conditions, is safe specifically in RUNX1-FPD individuals and whether it can improve the overall health of the blood system.
The study will also measure markers of blood cancer risk to determine whether sirolimus could also prevent blood cancer in RUNX1-FPD
Early research suggests it may positively affect the immune system, improve platelet function, reduce inflammation, and lower cancer risk.
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This early phase trial examines whether imatinib, a drug already used to treat certain blood cancers, is safe, and which dosage is optimal to increase the production of healthy RUNX1 protein.
This could help improve platelet function, reduce inflammation, and lower the risk of developing AML.
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This study allows participants to collect and store their blood stem cells for potential future use.
If a bone marrow transplant or future potential gene-editing therapy become necessary, having stored stem cells may improve treatment outcomes for those who have participated.
The ideal time to participate is early in life, before cells accumulate mutations over time.
Here is a summary comparison of all three trials as well (for a better mobile view and/or printable PDF of this table, click here):
| Sirolimus (Daily Oral Med) |
Imatinib (Daily Oral Med) |
Stem Cell Harvest / Bank (One-Time Collection) |
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|---|---|---|---|
| Location | Houston / MD Anderson | Bethesda / NIH | Houston / Philadelphia |
| Clinic Visits | 6 or 7 (8–9 days total) | 3 (4–5 days total) | 2 or more (11–12 days total) |
| Telehealth Appts | 3 or 2 | 5 or 9 | Up to 5 |
| Therapy Duration | 72 days | 28 or 84 days | 5–6 days |
| Bone Marrow Biopsies (BMBs) | 3 | 0–2 | 3–4 |
| Blood Draws | 5 | 2 | 7 |
| Total Trial Length | 12 months | 28 or 84 days | 24 months |
| Preclinical Efficacy | Reduces/modulates specific inflammatory pathways | Increases RUNX1 protein, improves platelets | Proven efficacy for stem cell donors |
| Safety History | Safe at higher dosages, "anti-aging" use | Safe at higher dosages | Safe for stem cell transplant donors |
| Medical Cost Sharing | Health insurance for routine medical care, RRP for research studies | NIH covers all medical costs | Health insurance for routine medical care, RRP for research studies |
| Logistics Cost Sharing (flights, food, lodging) | RRP covers the majority of these costs | NIH covers the majority of these costs | RRP covers the majority of these costs |
How to Get Involved
Participating in clinical trials requires trust and a willingness to contribute to research, but it’s built on years of laboratory research and, in this case, existing use of these treatments for other conditions. These trials are designed to explore how these treatments work for RUNX1-FPD specifically, and participation plays a crucial role in shaping future treatment options.
That said, participation is always a personal choice. If a clinical trial isn’t the right fit for you at this time, you are still an important part of our community and there are other ways to get involved toward a more promising future for all.
If you’re interested in learning more or discussing what participation may entail, please reach out to me or the study teams listed in the linked trial summaries above. We are here to answer your questions, provide information, and help you make the best decision for you and your family. These conversations come with no obligation—and you can withdraw from any clinical trial at any point without repercussions.
