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Study identifier: NCT06090669 Synced from ClinicalTrials.gov · July 28, 2026
● Recruiting

Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

Condition: Inherited Bone Marrow Failure Syndrome · Familial Platelet Disorder With Predisposition to Myeloid Malignancies  ·  Sponsor: National Cancer Institute (NCI)

PhasePhase 1
Planned participants75
Who can joinAll sexes, 18 Years to 120 Years
Healthy volunteersYes

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 da…

This description comes directly from the study's public registry record.

Talk to the study team

Valentina Bolanos, R.N.  ·  (240) 858-7666  ·  valentina.bolanos@nih.gov

Lea C Cunningham, M.D.  ·  (301) 642-1633  ·  lea.cunningham@nih.gov

Always discuss trial participation with your own doctor first.

Locations (1)

National Institutes of Health Clinical CenterBethesda, Maryland, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT06090669