Understanding how certain gene deficiencies lead to blood vessel malformations in a genetic disorder.
Erasing ill features of arterial endothelial cells in hereditary hemorrhagic telangiectasia
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA LOS ANGELES · NIH-11049155
This study is looking at how a specific gene called ALK1 affects the development of arteriovenous malformations (AVMs) in people with hereditary hemorrhagic telangiectasia (HHT), with the goal of finding new ways to treat and manage these blood vessel issues.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA LOS ANGELES (nih funded) |
| Locations | 1 site (LOS ANGELES, UNITED STATES) |
| Trial ID | NIH-11049155 on ClinicalTrials.gov |
What this research studies
This research investigates the role of a specific gene, activin receptor-like kinase 1 (ALK1), in causing arteriovenous malformations (AVMs) in patients with hereditary hemorrhagic telangiectasia (HHT). The study aims to understand how deficiencies in this gene can lead to harmful changes in arterial endothelial cells, which may contribute to the development of AVMs. By exploring the mechanisms involved, particularly the role of a protein called MDM2, the researchers hope to identify potential therapeutic strategies to reverse these changes and reduce the occurrence of AVMs. Patients may benefit from insights that could lead to new treatments for managing their condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hereditary hemorrhagic telangiectasia, particularly those experiencing arteriovenous malformations.
Not a fit: Patients without hereditary hemorrhagic telangiectasia or those not affected by arteriovenous malformations 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 life-threatening complications associated with hereditary hemorrhagic telangiectasia.
How similar studies have performed: Previous research has shown promising results in understanding the genetic mechanisms behind vascular diseases, suggesting that this approach could yield significant insights.
Where this research is happening
LOS ANGELES, UNITED STATES
- UNIVERSITY OF CALIFORNIA LOS ANGELES — LOS ANGELES, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: YAO, YUCHENG — UNIVERSITY OF CALIFORNIA LOS ANGELES
- Study coordinator: YAO, YUCHENG
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.