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Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

NCT06090669 · Status: RECRUITING · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 75

Last updated 2026-05-22

No results posted yet for this study

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:

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

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

Interventions

DRUG

imatinib

Imatinib at 300-400 mg PO QD based on arm assignment/dose level

DEVICE

TruSight Oncology

Assay sequencing platform to identify pathogenic genetic mutations in DNA and RNA

Sponsors & Collaborators

  • National Cancer Institute (NCI)

    lead NIH

Principal Investigators

  • Lea C Cunningham, M.D. · National Cancer Institute (NCI)

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SEQUENTIAL

Eligibility

Min Age
18 Years
Max Age
120 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-12-19
Primary Completion
2026-10-30
Completion
2027-10-30
FDA Drug
Yes

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06090669 on ClinicalTrials.gov