PATIENT RESEARCH OPPORTUNITIES

Help Advance RUNX1-FPD Research

Individuals and families with RUNX1-FPD play an important role in advancing research. By sharing health information, contributing samples, or joining a clinical study, participants can help researchers better understand RUNX1-FPD, inform future care, and work toward preventing blood cancer.

The opportunities below include online programs you can join from home, tissue donations during routine appointments with your own doctor, and in-person clinical studies and trials. Each has different eligibility requirements and participation commitments.

Select a card to learn more. If you have questions or would like help identifying an opportunity that may be right for you, please fill out the form at the bottom of the page. A member of the RUNX1 Research Program (RRP) team will be in touch.

RUNX1 Patient Data Hub

The RUNX1 Patient Data Hub and the RUNX1 Patient Tissue Bank both use the RUNX1 Research Portal on the Matrix platform. If you already have an account for one, you can use the same login to join the other.

The health information contributed by patients and families supports three goals:

  1. Guiding research by helping inform the design of studies focused on treating RUNX1-FPD and preventing blood cancer.
  2. Supporting patient care by generating reports about the experiences of the RUNX1-FPD community that patients can share and discuss with their healthcare teams.
  3. Driving advocacy and education by deepening understanding of the challenges individuals and families with RUNX1-FPD face.

To confirm eligibility, you will be asked to provide documentation of your germline RUNX1 variantiA change in the RUNX1 gene that you are born with and that can be passed down in a family. It is present in every cell of the body. for review by a genetic counselor with RRP.

You can complete the initial surveys at your own pace, save your progress, and return over several days. Having your medical records available may make some questions easier to answer.

In general, you will be invited to update your information once a year. Your previous answers will be carried forward so you can review them and update anything that has changed.

Adults can create an account for themselves, enroll on behalf of a child as a parent or guardian, or contribute information about a loved one who has died.

→ RUNX1 Patient Data Hub. → Ready to get started? Create a new account. → Already enrolled? Log in to an existing account. → Tell us you are interested and a member of the RRP team will be in touch.

NIH RUNX1-FPD Clinical Research Study

This is a natural history studyiA study that follows people over time to see how a condition develops. No treatment is given as part of the study., which means researchers follow participants over time and gather information. No treatment is given as part of the study.

The lifetime risk of developing leukemia or lymphoma is not the same for everyone with RUNX1-FPD. Across families studied so far, some have seen 11 percent of affected relatives develop cancer, while others have seen 100 percent. Nobody yet knows why.

By following the same people year after year, this study offers a rare chance to watch how the disorder evolves and impacts health over time, including potentially progressing to blood cancer. Questions the study team is asking include whether the type of RUNX1 variant affects blood cancer risk, whether platelet count levels predict risk, whether certain acquired mutations carry higher risk than others, and whether symptoms such as joint issues and fatigue are associated with RUNX1 variants.

What participation involves:

  • A phone screening and a saliva, cheek swab, or blood sample
  • A first visit of about two days at the NIH Clinical Center in Bethesda, Maryland
  • Follow-up visits at least once a year
  • Visits include a physical exam, blood work, and a bone marrow evaluation. Some participants are also asked for a skin sample
  • Keeping a simple diary of symptoms between visits

There are no age limits. Infants, children, and adults can all take part. Family members who do not have RUNX1-FPD can join as comparison participants, which helps researchers understand what makes the difference.

Participation is free. The NIH covers travel within the United States.

Participants based outside of the U.S. can also take part. NIH covers travel once you have reached the U.S., and RRP may be able to assist with costs associated with getting to the U.S. border. Contact Amanda Eggen at aeggen@runx1-fpd.org for more information.

→ Learn more about the study at NIH. → Tell us you are interested and a member of the RRP team will be in touch.

RUNX1 Patient Tissue Bank

Individuals with a documented or suspected germline RUNX1 variant can participate multiple times, including those already enrolled in other RUNX1 research.* No extra travel or procedures are necessary. A collection kit is mailed to you at no cost, and you bring it to your routine appointments.

Your samples are de-identifiediPersonal details such as your name and date of birth are removed, so researchers studying the sample cannot tell who it came from., frozen, and can be stored for decades. When researchers want to study them, every request is reviewed before a single sample leaves the freezer. The review group includes RUNX1-FPD medical and research specialists, and individuals with RUNX1-FPD, giving patients a voice in how samples are used.

Approved studies focus on three areas:

  • Understanding RUNX1-FPD biology
  • Developing ways to detect blood cancer earlier
  • Improving quality of life while working toward blood cancer prevention

Please share this opportunity with family members who have RUNX1-FPD. Comparing samples across a family could help researchers understand why some people with a germline RUNX1 variant develop blood cancer while others do not.

The RUNX1 Patient Data Hub and the RUNX1 Patient Tissue Bank both use the RUNX1 Research Portal on the Matrix platform. If you already have an account for either program, you can use the same login to join the other.

*If you are enrolled in the NIH study, samples collected for that study take priority. Participants are asked to send samples from their local clinic only when they are not already being sent to the NIH.

→ RUNX1 Patient Tissue Bank. → Ready to get started? Create a new account. → Already enrolled? Log in to an existing account. → Tell us you are interested and a member of the RRP team will be in touch.

Sirolimus Clinical Trial

The main question this trial addresses is whether a very low daily dose of sirolimus is safe and well tolerated in people with RUNX1-FPD. Answering that question first is what makes it possible to test sirolimus in a larger trial later. Everyone in the study takes the same dose: one 2mg pill a day for six months.

Sirolimus may help improve blood cell production by targeting a cellular pathway called mTORC1iA signaling pathway inside cells that helps control growth, survival, and inflammation., which controls cell growth, survival, and inflammation. In RUNX1-FPD, this pathway appears to be overactive, contributing to chronic inflammation in the bone marrow, which impairs the production of healthy blood cells and can support the growth of precancerous cells. By inhibiting mTORC1, sirolimus may calm that inflammation, improving blood health and lowering the risk of blood cancer.

Alongside safety, the study team is also measuring things like platelet counts, bleeding symptoms, and changes in the bone marrow.

The research behind this trial was conducted by RRP-funded investigator Dr. Anupriya Agarwal, who found that sirolimus may benefit those with RUNX1-FPD. Sirolimus has been available for decades and used safely for many other conditions.

What participation involves:

  • Three days at MD Anderson or OHSU for screening, including exams, blood and urine tests, a heart function test, and a bone marrow biopsy
  • One 2mg pill daily at home for six months
  • Check-in visits at 1 week, 4 weeks, 3 months, 5 months, and 6 months. Two of these can be done by telehealth
  • A bone marrow biopsy at six months, and a follow-up visit with one more biopsy at twelve months

This trial is for people who have not been diagnosed with blood cancer. There are other health requirements as well, and the study team can help you determine whether the trial is a good fit for you. The contact information is available in the one-page summary.

Travel, lodging, and food assistance are available for eligible U.S.-based patients who need it. At this time, participation in this trial may be complicated for patients living outside of the U.S., but please know that we are actively working to find solutions. If you are interested in this study, please contact Amanda Eggen at aeggen@runx1-fpd.org for more information.

→ Read the study details for MD Anderson on ClinicalTrials.gov. → Read the study details for OHSU on ClinicalTrials.gov. → Download the one-page summary. → Tell us you are interested and a member of the RRP team will be in touch.

NIH Imatinib Clinical Trial

This trial is determining what dose of imatinib is safe and well tolerated in RUNX1-FPD, and assessing whether it improves platelet function and reduces inflammation. Answering the dose question is what makes a larger trial possible later.

Imatinib may help by blocking a protein called c-abl, which may allow the single healthy copy of the RUNX1 gene to function more effectively. That could mean better platelet production, fewer bleeding symptoms, and stronger DNA repair in blood-forming cells. Imatinib is already FDA-approved for several other blood conditions.

The research behind this trial was conducted by RRP-funded investigator Dr. Alan Cantor at Boston Children's Hospital, whose lab work suggested that imatinib may benefit RUNX1-FPD. Dr. Lea Cunningham at the National Cancer Institute leads the trial with Dr. Cantor.

What participation involves:

  • Screening, including blood tests, a heart function test, and a bone marrow evaluation if one has not been done in the past year
  • One tablet daily at home, for either four weeks or twelve weeks depending on which part of the study joined
  • Blood tests every two weeks, which can be done at home or at the NIH
  • A follow-up visit thirty days after medication is finished

Participants also fill out short questionnaires about how they are feeling.

Family members and others without a RUNX1 variant can participate by donating blood or bone marrow. They do not take imatinib.

→ Read the study details on ClinicalTrials.gov. → Download the one-page summary. → Tell us you are interested and a member of the RRP team will be in touch.

Stem Cell Harvesting and Banking Clinical Trial

This trial is asking whether blood stem cells can be safely collected from people with RUNX1-FPD and whether enough can be collected to be useful. Collecting stem cells this way is routine and has been done for decades, but it has not been studied in RUNX1-FPD before.

Your stem cells are stored for you. They are not donated to anyone else, and no other patient can use them. These could be used if you ever need a transplant using your own cells, or in case gene editing treatments for RUNX1-FPD become available. A gene editing trial is not guaranteed, but having cells stored means the option exists.

What participation involves:

  • Screening about three months before enrollment
  • Daily injections for five days to move stem cells from the bone marrow into the bloodstream
  • Collection over one or two days using an apheresisiA machine draws blood from the body, separates out the part that is needed, and returns the rest of the blood to you. machine, which draws blood from the body, separates out the stem cells, and returns the blood to the body. Each session takes two to four hours
  • Follow-up visits and bone marrow evaluations over two years, some of which may be possible at your local center

Having acquired mutations in your bone marrow does not automatically rule you out. The study team can help you determine whether the trial is a good fit for you.

Travel, lodging, and food assistance are available for eligible U.S.-based patients who need it. At this time, participation in this trial may be complicated for patients living outside of the U.S., but please know that we are actively working to find solutions. If you are interested in this study, please contact Amanda Eggen at aeggen@runx1-fpd.org for more information.

→ Read the study details on ClinicalTrials.gov. → Download the one-page summary. → Tell us you are interested and a member of the RRP team will be in touch.

Please fill out this form if you are interested in any of the research opportunities listed above and a member of the RRP team will be in touch soon.