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First received: October 17, 2023

Clinical Trial: Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

Study Status: Completed

Recruit Status: RECRUITING

Condition: Inherited Bone Marrow Failure Syndrome

Study Type: INTERVENTIONAL


Official Title: Phase Ib Study of Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

Brief 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…

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