NIH RUNX1-FPD Clinical Research Study

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NIH RUNX1-FPD Clinical Research Study – Now Enrolling!

One of our foundational goals was to help lobby for and orchestrate a comprehensive, long-term, centralized, natural history study of patients with a germline RUNX1 mutation. A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.

Thanks to the tireless efforts of one of our Scientific Advisors, Dr. Paul Liu, this is now a reality. We are absolutely thrilled to share with you a groundbreaking new research study taking place at the National Institutes of Health in Bethesda, Maryland. If you are interested in participating in this study, you will be taking an active role in both managing your own health and pushing the field one step forward towards finding a cure. 

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.

Study Summary

We know that a germline RUNX1 mutation can cause a hereditary blood disorder known as RUNX1 familial platelet disorder (RUNX1-FPD). RUNX1-FPD individuals are at a high risk for hematological malignancies (blood cancers). This study has the potential for significant impact on the field of hematology/oncology because of the rare opportunity to monitor the genomic evolution of cancer from a pre-cancer population in real time. The aim is to better understand how RUNX1-FPD develops by identifying what factors differentiate those who progress to cancer from those who don’t.

Today we know that the lifetime risk of developing leukemia or lymphoma is not the same for each RUNX1-FPD patient. Analyses across many RUNX1-FPD families show that some have 11% of affected family members go on to develop cancer, while others have 100%. This natural history study may be able to hone in on what factors are associated with cancer risk. For example, some of the questions that are being addressed in the study include:

  • Does the type of mutation play a role in defining risk?

  • Do the level of platelet counts have an impact on risk?

  • Do certain secondary mutations, those acquired in the blood, confer a higher risk than other mutations?

  • Can secondary mutations help us understand the timing of cancer onset, severity or type of cancer?

  • What about other signs and symptoms, like eczema? Could this be linked to germline RUNX1 mutations?

These are just some of the questions the NIH researchers hope to begin to answer. As a rare disorder, the more patients enroll and participate, the more meaningful data can be generated from which to derive conclusions about how to improve diagnoses, cancer surveillance protocols, early cancer detection method and cancer treatments.

The Team

As the only RUNX1-FPD patient advocacy organization, we at the RRP are partnering with the NIH to take the lead on making the study known to every patient we can find. Though the NIH will cover all travel expenses for patients within the US to travel to Maryland, our foundation will cover the costs of international participants coming to the US. Moreover, we will look to fund subsequent research proposals that make use of data generated by the study to help find a cure. We also aim to help streamline and clarify the enrollment process, where we can. We encourage you to contact us with any questions or issues you may have, as you consider participation, so we can help make the process as painless as possible. We recognize it is no small ask to travel to Maryland for a couple of days of health visits.

At the NIH, the RUNX1-FPD Clinical Research Study team consists of physician scientists invested in taking care of our patients. Following is a brief introduction to each of the Clinical Leads.


Paul Liu, M.D., Ph.D. - Principal Investigator - is an expert on leukemia genetics, and has been an instrumental advisor and friend of the RUNX1 Research Program. In his role as the Deputy Scientific Director of the NIH’s NHGRI (National Human Genome Research Institute), he advocated for the creation of the Clinical Research Study within the NIH’s Intramural Research Program. Dr. Liu has been part of the NIH for close to 30 years, bringing deep knowledge and wisdom to our study. He will oversee its overall organization.

Lea Cunningham, M.D. - Medical Director - is the lead study clinician, caring for patients while at the NIH and conducting close follow-up throughout the year between their NIH visits with their referring physicians. She has been a longstanding champion of RUNX1 clinical research, having been a research fellow at the National Human Genome Research Institute nearly a decade ago, working closely with Dr. Liu to take care of RUNX1-FPD patients. Dr. Cunningham is also the fellowship director of the NIH's Pediatric Bone Marrow Transplant program. She has completed fellowships in pediatric hematology-oncology, and pediatric bone marrow transplantation and cellular therapy. Before returning to the NIH, she served as physician-scientist faculty in the Department of Bone Marrow Transplantation and Cellular Therapy at St. Jude Children’s Research Hospital, where her research focused on developing targeted therapy and improved transplantation methods for patients with myeloid malignancies. 

Matthew Merguerian, M.D., Ph.D. - Clinical Fellow - serves as Pediatric Hematology/Oncology Fellow both at the Johns Hopkins Hospital and the National Cancer Institute within the NIH. Dr. Merguerian is a physician scientist who trained as both a chemist in the lab and a doctor in the clinic taking care of children with blood cancers. He brings young energy and a highly valued perspective to the team.


The NIH is the largest public funder of biomedical research in the world, with more than $30 billion in U.S. taxpayer dollars funded to achieve its mission to: ‘enhance health, lengthen life, and reduce illness and disability’. It is the natural home for this centralized study.

Together with our physicians, the clinical study team at the NIH and patient families, we can learn more about how having RUNX1-FPD predisposes patients to blood cancer. Then, as a global team, we can put strategies in place to stop cancer from ever happening. Please join our efforts and also help spread the word.

Click here to view the NIH’s Clinical study protocol.

NIH RUNX1-FPD Study Inquiry

Please let us know if you are a patient, clinician, or other interested party. Your inquiry is being sent to both the RRP and the NIH. Thank you for your interest.

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