PATIENT RESEARCH OPPORTUNITIES
Join RUNX1-FPD patients who are making a difference!
Are you an individual with RUNX1-FPD interested in contributing to
medical advancements for this disease?
By participating in research initiatives, you can help advance our understanding of RUNX1-FPD, improve patient care and be a part of groundbreaking research.
Whether it's joining the patient database, participating in clinical trials, or contributing to biospecimen collections, your involvement is crucial in helping us reach our mission of finding cancer prevention treatments.
Please read through each study below and fill out this form if you would like to learn more.
Sirolimus Clinical Pilot Study
RRP-funded investigator Dr. Anupriya Agarwal discovered that the drug sirolimus may benefit RUNX1-FPD. Based on this discovery, MD Anderson Cancer Center is conducting a pilot study to evaluate the safety and tolerability of a very low dose of sirolimus, also known as rapamycin, for individuals with RUNX1-FPD.
A pilot study is a small-scale preliminary study conducted to evaluate the feasibility, safety and tolerability of a treatment before it is tested in a larger, more comprehensive clinical trial.
Sirolimus may help improve blood cell production by targeting a cellular pathway in the body called mTORC1, which controls cell growth and survival.
In patients with RUNX1-FPD, this pathway appears to be too active, leading to problems with making healthy blood cells and supporting the growth of precancerous cells.
By inhibiting mTORC1, sirolimus might improve the health of the blood system and reduce the risk of blood cancer in RUNX1-FPD patients. The primary objective of this study is to determine the safety and tolerability of low-dose sirolimus for RUNX1-FPD patients.
Click here to read more details about this study on ClinicalTrials.gov.
Click below to download a one-page summary of this study, or a printable black-and-white version.
Stem Cell Harvesting & Banking Clinical Trial
RRP is sponsoring a clinical trial at MD Anderson Cancer Center that aims to evaluate the safety and feasibility of collecting and banking blood stem cells from RUNX1-FPD patients.
The team believes this procedure may benefit patients in the future should gene editing technology improve. With more advanced technology than what is currently available, the RUNX1 variants in these stored cells could be corrected and used to improve the health of patients using their own cells.
Click here to read more details about this study on ClinicalTrials.gov.
Click below to download a one-page summary of this study, or a printable black-and-white version.
Biospecimen Sharing Form
Biospecimens are samples of materials collected from the human body, like tissue or blood. During a biopsy, a small sample of human tissue is extracted. Once these samples are processed and stored, they're called human biospecimens.
Every time an individual undergoes a diagnostic biopsy (and with certain surgeries), leftover samples are often stored for many years where the procedure was done.
Access to these samples for a rare disease like RUNX1-FPD is a gold mine for researchers and can significantly accelerate finding answers to questions crucial to understanding the disease.
RRP is asking individuals with RUNX1-FPD who have had surgeries or biopsies in the past whether they'd be willing to allow scientists studying RUNX1-FPD to reach out to their doctors for any leftover samples.
Please click on the button below to fill out a Google Form* to let us know what procedures you have had and if we can contact you to discuss the steps to donate. Please note that filling out the form does not mean you’ve committed to sharing the samples. It simply lets us know you are open to discussing the possibility and that we can contact you with more details.
*Any medical information shared in this form is protected under RRP’s Google Workspace/Cloud Identity HIPAA Business Associate Amendment and Cloud Data Processing Addendum.
NIH RUNX1 Clinical Research Study
We know that a germline RUNX1 mutation can cause the hereditary blood disorder known as RUNX1-FPD, and that RUNX1-FPD individuals are at high risk of developing hematological malignancies (blood cancers).
This study has the potential for a 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 understand better 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 research 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?
The NIH RUNX1-FPD Clinical Research Study team consists of physician-scientists invested in caring for RUNX1-FPD patients. 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.
Please fill out this form if you would like to learn more about this study.
NCI Imatinib Clinical Trial
The National Cancer Institute (NCI) is conducting a Phase 1b clinical trial to treat RUNX1-FPD patients with a medicine called imatinib. The study team believes that it may be effective in increasing RUNX1 protein levels in individuals with RUNX1-FPD who have low RUNX1 protein levels.
The main focus of this clinical trial phase is to determine the safest dose of imatinib that can be comfortably tolerated by participants. The findings from this study will help guide whether this medicine should be further studied. The ultimate goal is to determine whether this medicine can improve the health of patients’ blood systems and reduce blood cancer risk.
Click here to read more details about this study on ClinicalTrials.gov.
Click below to download a one-page summary of this clinical trial, or for a printable black-and-white version.