Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Status:
Recruiting
Trial end date:
2027-10-30
Target enrollment:
Participant gender:
Summary
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:
To test a drug (imatinib) in people with RUNX1 mutations that cause symptoms.
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 and urine tests. They will have a test of their heart function. They may need a new
bone marrow biopsy: A sample of soft tissue will be removed from inside a bone.
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.
Participants will visit the clinic once a week for the first 28 days that they are taking the
imatinib. Then they will come once every 2 weeks if they are taking the drug for 84 days.
Blood, urine, and tests of heart function will be repeated. They may opt to have the bone
marrow biopsy repeated after they finish their course of imatinib.
Participants will have a follow-up visit 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....