Sharing Drops of Insight from the RUNX1-FPD Experience
By Dr. Amanda Eggen
December 1, 2025, marked the three-year anniversary of the launch of the RUNX1 Patient Data Hub (“the Data Hub”). To celebrate this milestone, we are introducing a new communications series: RUNX1 Insight Drops.
Each Insight Drop shares a handful of bite-sized insights drawn directly from the health experiences RUNX1-FPD individuals have shared in the Data Hub. Together, these drops offer an evolving picture of what life with RUNX1-FPD looks like across our community.
How the Data Hub Helps Us Learn
The Data Hub gathers information directly from individuals with RUNX1-FPD about a wide range of health issues and experiences, including some that may or may not be related to RUNX1-FPD.
Many questions in the Data Hub were added because patients asked:
“I wonder if this could be connected to my RUNX1 variant?”
Collecting this information allows us to begin answering these questions and to consider what scientists could explore more deeply through additional research studies. The Data Hub also tracks well-established, foundational features of RUNX1-FPD, such as low platelet counts, easy bruising, gum and nosebleeds, and platelet function defects, supported by peer-reviewed research.
Together, these data help us build the most complete picture possible of life with RUNX1-FPD
Providing Context for These Insights
When possible, we will place community-reported findings from the Data Hub in context by comparing them to data from large population-based research studies. These studies include many individuals and help approximate how common a symptom or experience may be in the general population, in people without RUNX1-FPD.
This comparison can help us understand whether an insight reflects something many people experience, or whether it may be more closely associated with RUNX1-FPD.
One resource we expect to use over time is the All of Us Research Program, a major U.S.-based effort collecting health information from more than 1 million adults.
Who’s in the Patient Data Hub Today
The first set of Insight Drops includes data collected through December 15, 2025. As of that date, the RUNX1 Patient Data Hub on the Matrix platform includes:
69 active participant accounts across 51 unique families
28 participants also enrolled in the RUNX1-FPD Tissue Bank, a complementary resource that strengthens research when paired with Data Hub data
Among these 69 accounts:
62 individuals have confirmed RUNX1 variants (classified as pathogenic, likely pathogenic, or variant of uncertain significance [VUS] based on genetic counselor review)
Approximately 54 individuals have completed the majority of the survey questions
Every Single Individual Strengthens Every Insight
When we report insights based on responses from 50 participants or more, we feel increasing confidence that these findings may reflect shared experiences across the RUNX1-FPD community.
Some insights, however, are based on smaller numbers. In the past year, we added new questions in response to topics raised by individuals in our community.
Only participants who joined recently, or longer-term participants who returned to the system and completed new questions, are represented in those insights.
Where to Find the Insight Drops and How They’ll Grow Over Time
The RUNX1 Insight Drops webpage will serve as a central home for these insights.
At the top of the page, you’ll find a short introduction explaining the series.
Below that, you’ll see 3–5 individual “Insight Drop.s”
Each card can be opened to view a specific insight, including:
The question that was asked
How many participants are included
How we might interpret the responses to the question
The date the insight was published
Each month, we will:
Add new Insight Drops
Clearly mark which drops are new that month
Date each card so readers can see when the data were captured
Because participation in the Data Hub continues to grow, previously published Insight Drops will reflect the data available at the time they were created and will not be retroactively updated.
This allows us to track how understanding evolves over time as more individuals participate.
What Insights Are Included in This Inaugural Set?
For our launch, we’re sharing insights across a mix of topics to show the breadth of information the Data Hub helps us explore:
Fatigue
Ears and hearing
Numbness and tingling in the extremities
Digestive issues
Spinal pain
Future Insight Drops will focus on specific themes and may also dive more deeply into individual health issues.
Foundational Insight
While this month’s insights focus on signs and symptoms patients often ask about, it is important to remember that RUNX1-FPD is fundamentally a genetic blood disease, characterized by low platelet counts, impaired platelet function, and an increased risk of blood cancer.
These core features are well established in peer-reviewed research and consistently reflected in the RUNX1 Patient Data Hub dataset.
Next month’s Insight Drop — Blood & Bleeding Insights — will explore these foundational features in greater depth.
Thank You & What’s Next
Thank you to the many individuals and family members who have contributed their experiences to the RUNX1 Patient Data Hub. Every data point helps deepen our understanding of RUNX1-FPD, and every insight begins with the information you choose to share.
If you have not joined the RUNX1 Patient Data Hub before, please click here to create your account and get started. If you previously enrolled through the RUNX1 Patient Data Hub on its original software platform (REDCap), please retrieve your account here and re-consent through your RUNX1 Research Portal on Matrix so your data can continue to shape these insights. And please complete fatigue surveys when they appear — small drops really do make a big impact.
About the Author
Dr. Amanda Eggen is the Director of Patient Engagement and Clinical Programs at the RUNX1 Research Program. With a background in cancer research, patient advocacy, and social psychology, she is dedicated to supporting families affected by RUNX1-FPD. Her work is driven by both professional expertise and personal experience as a patient advocate during her father’s cancer journey.