Preventing blood cancer in RUNX1 familial platelet disorder with imatinib
Study of tyrosine kinase inhibitors as preventive therapy in RUNX1-FPD
This project will test whether the cancer drug imatinib can help people with inherited RUNX1 familial platelet disorder by restoring DNA repair and reducing pre-leukemic cell growth.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-11324882 on NIH RePORTER |
What this research studies
If you have RUNX1-related familial platelet disorder, researchers will analyze your blood or bone marrow cells and compare them with lab and mouse models to see whether imatinib restores DNA damage repair and reduces inflammatory signals that drive pre-leukemic clonal growth. They will treat patient-derived cells in the lab and use mouse models to measure DNA repair responses, cytokine levels, and whether imatinib reduces selection of mutant blood cell clones. The team will also map which molecular pathways imatinib changes to understand how the drug might prevent malignant transformation. If the lab results look promising, this work could lead to early clinical prevention trials for people with RUNX1-FPD.
Who could benefit from this research
Good fit: People with germline RUNX1 mutations and a diagnosis of familial platelet disorder, especially those with evidence of clonal hematopoiesis or abnormal blood counts, would be the ideal candidates.
Not a fit: People without RUNX1 mutations or those who already have overt leukemia are unlikely to benefit from this preventive-focused approach.
Why it matters
Potential benefit: If successful, this could provide a drug-based way to lower the risk of developing leukemia in people with RUNX1-related familial platelet disorder.
How similar studies have performed: Imatinib is a proven therapy for other blood cancers like CML, but using it to restore DNA repair and prevent leukemia in RUNX1-FPD is largely untested and currently supported only by early lab and mouse data.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Castilla, Lucio H. — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Castilla, Lucio H.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.