Investigating pathways involved in a genetic bleeding disorder
mTOR and VEGFR2 pathways in HHT pathogenesis
This study is looking at how certain genes cause problems with blood vessels in people with hereditary hemorrhagic telangiectasia (HHT), and it aims to find new treatments that could help prevent issues like bleeding and anemia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Feinstein Institute for Medical Research NIH-funded |
| Lab location | 1 site (Manhasset, United States) |
| Project ID | NIH-10652406 on NIH RePORTER |
What this research studies
This research focuses on hereditary hemorrhagic telangiectasia (HHT), a genetic condition that leads to dangerous blood vessel malformations. The study aims to understand how certain pathways in the body, specifically mTOR and VEGFR2, become overactive due to genetic mutations. By using advanced techniques to analyze gene expression and testing drug combinations in laboratory models, the researchers hope to find effective treatments that can prevent complications like bleeding and anemia associated with HHT.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hereditary hemorrhagic telangiectasia, particularly those experiencing severe symptoms.
Not a fit: Patients without hereditary hemorrhagic telangiectasia or those with other unrelated bleeding disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that significantly reduce the risk of bleeding and improve the quality of life for patients with HHT.
How similar studies have performed: Previous research has shown promising results with similar approaches targeting the mTOR and VEGFR2 pathways in other vascular disorders.
Where this research is happening
Manhasset, United States
- Feinstein Institute for Medical Research — Manhasset, United States (Active)
Researchers
- Principal investigator: Marambaud, Philippe — Feinstein Institute for Medical Research
- Study coordinator: Marambaud, Philippe
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.