Treating GNAQ-related vascular birthmarks and dangerous clotting (KMP)
Pathogenesis of Vascular Anomalies with GNAQ mutations
This project will try a drug that blocks an overactive cell pathway to slow dangerous GNAQ-mutant blood vessel growth in people with vascular birthmarks and related clotting problems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project ID | NIH-11330228 on NIH RePORTER |
What this research studies
If you or your child has a GNAQ-mutant vascular anomaly, this research is building models to better understand how the abnormal gene causes overgrowth and a life-threatening clotting complication called Kasabach-Merritt Phenomenon (KMP). The team created a mouse model that mimics patient tissue and coagulopathy, and they will also build lab-grown vessel chips and cell systems from patient tissue to study disease mechanisms. They plan to focus on an overactive MAPK/ERK pathway and test whether the MEK inhibitor trametinib can reduce abnormal vessel growth and improve survival in their models. The overall aim is to use these models to identify treatments that could move toward patient testing.
Who could benefit from this research
Good fit: Ideal candidates are people (often children) with vascular anomalies known or suspected to carry activating GNAQ mutations, especially those who have or are at risk for Kasabach-Merritt Phenomenon.
Not a fit: Patients whose vascular anomalies are caused by other genes or non-GNAQ mechanisms, or whose condition is unrelated to MAPK/ERK signaling, are unlikely to benefit directly from these findings.
Why it matters
Potential benefit: If successful, this work could point to targeted therapies (for example, MEK inhibitors) that reduce dangerous vessel overgrowth and prevent or treat Kasabach-Merritt coagulopathy in patients with GNAQ mutations.
How similar studies have performed: Preclinical work from the team shows trametinib extended life in GNAQ-mutant mice, offering promising preclinical evidence, but clinical benefit in people has not yet been demonstrated.
Where this research is happening
Cincinnati, United States
- Cincinnati Childrens Hosp Med Ctr — Cincinnati, United States (Active)
Researchers
- Principal investigator: Boscolo, Elisa — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Boscolo, Elisa
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.