Investigating a new treatment for a rare blood disorder linked to leukemia risk
Official title: RepSox and its analog for prophylactic intervention in RUNX1 haploinsufficiency FPDMM
Funded at Children's Hosp of Philadelphia · NIH-11094271 · Data updated 2026-11-12
This study is looking at how a special compound called RepSox can help people with Familial Platelet Disorder, which affects their blood platelets and increases the risk of leukemia, by improving platelet function and reducing bleeding risks.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | June 5, 2025 |
| Project end | May 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $489,500 |
| NIH project number | 1R21TR005192-01A1 |
| Project ID | NIH-11094271 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Familial Platelet Disorder with associated Myeloid Malignancy due to RUNX1 haploinsufficiency.
✕Less likely to help
Patients without RUNX1 haploinsufficiency or those with other unrelated blood disorders may not benefit from this research.
What this research studies
This research focuses on Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM), a rare condition caused by a deficiency in the RUNX1 transcription factor. The study aims to evaluate the effects of a compound called RepSox, which has shown promise in correcting platelet defects and reducing the risk of leukemia in laboratory models. By using patient-derived stem cells, researchers will assess how RepSox can improve platelet function and potentially lower bleeding risks in affected individuals. The ultimate goal is to develop a clinical application for patients suffering from this disorder.
Why it matters
Potential benefit: If successful, this research could provide a new treatment option that reduces bleeding risks and the likelihood of developing leukemia for patients with FPDMM.
How similar studies have gone: While this approach is novel in the context of FPDMM, similar strategies targeting the TGFb pathway have shown promise in other hematological conditions.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Poncz, Mortimer — Children's Hosp of Philadelphia
- Study coordinator: Poncz, Mortimer
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.