Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Cancer Institute (NCI)
Study ID
NCT06090669
Phase
PHASE1
Status
Recruiting
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Conditions

  • Familial Platelet Disorder With Predisposition to Myeloid Malignancies
  • Inherited Bone Marrow Failure Syndrome

Eligibility Criteria

Sex
ALL
Age
18 Years - 120 Years
Healthy Volunteers
Accepted

Interventions

  • imatinib — DRUG
    Imatinib at 300-400 mg PO QD based on arm assignment/dose level
  • TruSight Oncology — DEVICE
    Assay sequencing platform to identify pathogenic genetic mutations in DNA and RNA

Study Details

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.

Key Dates

Start date
Dec 19, 2023
Status verified
May 2026
Primary completion
Oct 30, 2026
Completion
Oct 30, 2027

Study Design

Enrollment
75 participants (estimated)
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT

Arms

  • Experimental: Dose Escalation
    Escalating doses of imatinib to determine the MTD
  • Experimental: Dose Expansion
    Imatinib at the MTD
  • No Intervention: No Treatment
    Collection of blood or marrow only. No treatment.

Primary Outcome Measure

Determine the dose of imatinib for dose expansion in participants with pathogenic or likely pathogenic germline RUNX1 mutations during the dose escalation phase [ Time Frame: Arm 1 for 1 month and Arm 2 for 3 months ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
National Cancer Institute Referral Office
888-624-1937

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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