Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Eligible age
18–120 yrs
Accepts
All genders
Locations
1 state
Healthy volunteers
Yes
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About this study
Background: Runt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood, bone marrow, and lymph nodes. Objective: The purpose of the study includes determining which dose of imatinib is best for people with pathogenic or likely pathogenic RUNX1 mutations without blood cancers, and to determine whether there are any changes in platelet function and inflammatory markers. Eligibility: Adults aged 18 and older with RUNX1 mutations. Healthy people without this mutation, including family members of affected participants, are also needed. Design: Participants with the RUNX1 mutation will be screened. They will have a physical exam with blood tests. They will have a test of their heart function. They may need a new bone marrow biopsy if they haven't had one in the past year. Imatinib is a tablet taken by mouth once a day, every day, at home. Affected participants in different parts of the study will take imatinib for either 28 days or up to 84 days. They will fill out questionnaires about how they are feeling. For the first part of the study, participants will have blood tests every 2 weeks, either at home or at the NIH, while they are taking the imatinib. They will have a follow up visit, at home or at the NIH, when they are done taking imatinib on Day 28. Participants on the second part of the study will come to NIH on days 1 and days 84. They will have blood tests every 2 weeks (at home or the NIH) while they are taking imatinib. They may opt to have a bone marrow biopsy repeated after they finish their course of imatinib. Participants will have a follow-up visit (at home or the NIH) 30 days after they stop taking imatinib. Participants who do not have the RUNX1 mutation will have 1 clinic visit. They will have blood tests. They will fill out questionnaires. They may opt to have a bone marrow biopsy.
Sponsor: National Cancer Institute (NCI)
You may qualify if…
- ✓ Unaffected family members or healthy volunteers without RUNX1 mutation by pedigree or molecular testing Only participants who are related to the proband need to provide a molecular test.
- ✓ The last dosage of any platelet inhibiting medications was at least 2 weeks prior to enrollment and research sample acquisition.
- ✓ Age \>=18 years.
- ✓ ECOG performance status \<=2 (Karnofsky \>=60%).
- ✓ Participants must have adequate organ and marrow function as defined below:
- ✓ leukocytes \>= 3,000/mcL
- ✓ absolute neutrophil count \>= 1,500/mcL
- ✓ platelets \>= 50,000/mcL (without transfusion support)
You may not qualify if…
- ✕ Participants who are receiving any other investigational agents.
- ✕ Participants who received prior hematologic malignancy directed therapy
- ✕ Participants receiving medication that would affect platelet number or function (e.g., aspirin and anti-platelet medications
- ✕ Participants without access to medical care at home.
- ✕ Pregnancy (confirmed with beta-HCG serum or urine pregnancy test performed in females of childbearing potential at screening).
- ✕ Participants with the following pathogenic/likely pathogenic abl mutations on baseline Illumina TSO500 testing of any detectable VAF within 12 months of receiving the first dose of imatinib
- ✕ -Abl mutations resistant to imatinib (T315I, F317L/V/C, T315A, V299L, Y253H, E255V/K, F359V/I/C)
- ✕ History of allergic reactions attributed to compounds of similar chemical or biologic composition to imatinib or other agents used in study.
Where it's recruiting
Bethesda
Source: ClinicalTrials.gov · NCT06090669 · last updated 2026-06-22