Actively Recruiting
Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Led by National Cancer Institute (NCI) · Updated on 2026-05-12
75
Participants Needed
1
Research Sites
201 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults aged 18 years or older
- Confirmed pathogenic or likely pathogenic germline RUNX1 variant for affected participants
- History of clinically significant bleeding or platelet dysfunction for affected participants
- Bone marrow evaluation within 12 months before starting imatinib for affected participants
- TSO500 genetic testing within 12 months before starting imatinib for affected participants
- No suspicion of significant gastrointestinal malabsorption
- HIV patients on stable therapy with undetectable viral load and no drug interactions with imatinib
- Participants with controlled hepatitis B or treated hepatitis C infection
- Unaffected family members or healthy volunteers without RUNX1 mutation
- Last dose of platelet-inhibiting medications at least 2 weeks before enrollment
- ECOG performance status 0 to 2 (Karnofsky score 60% or higher)
- Adequate organ and marrow function (specific blood count and chemistry limits)
- Use of effective contraception during the study and for 30 days after last dose
- Willingness to stop breastfeeding during treatment and for 30 days after last dose
- Ability to understand and sign informed consent
You will not qualify if you...
- Receiving any other investigational agents
- Prior therapy for hematologic malignancy
- Medications affecting platelet number or function (e.g., aspirin, anti-platelet drugs)
- No access to medical care at home
- Pregnancy
- Presence of imatinib-resistant ABL mutations detected within 12 months before treatment
- Allergic reactions to imatinib or similar compounds
- Use of medications that inhibit or induce CYP3A4 metabolism
- Uncontrolled illness that could affect study compliance or safety
- Cardiac conditions including symptomatic congestive heart failure, unstable angina, or arrhythmias
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
R
Rebecca B Alexander
CONTACT
L
Lea C Cunningham, M.D.
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
3
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