Understanding Blood Vessel Malformations
Endothelial RASOpathies and Vascular Malformations
['FUNDING_R01'] · NORTHWESTERN UNIVERSITY · NIH-11141138
This research aims to understand how genetic changes lead to abnormal and fragile blood vessels in conditions like capillary malformation-arteriovenous malformations (CM-AVM).
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NORTHWESTERN UNIVERSITY (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-11141138 on ClinicalTrials.gov |
What this research studies
Our bodies have a complex signaling system called RAS that is important for normal development. When there are specific changes in a gene called RASA1, it can lead to conditions where blood vessels don't form correctly, creating fragile and abnormal vessels. These conditions, known as capillary malformation-arteriovenous malformations (CM-AVM), can cause serious health issues like seizures or stroke. We are using special mouse models that develop similar blood vessel problems to learn more about how these genetic changes cause the malformations. By understanding the exact steps that lead to these abnormal vessels, we hope to find new ways to treat them.
Who could benefit from this research
Good fit: This research is relevant for individuals diagnosed with capillary malformation-arteriovenous malformations (CM-AVM) or those with RASA1 gene mutations.
Not a fit: Patients without conditions related to RASA1 mutations or vascular malformations are unlikely to directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to new medications or strategies to correct abnormal blood vessel formation and prevent serious complications in patients with CM-AVM.
How similar studies have performed: While the role of RAS signaling in disease is known, this specific approach using novel mouse models to pinpoint secondary genetic triggers for CM-AVM is a focused and relatively new area of investigation.
Where this research is happening
CHICAGO, UNITED STATES
- NORTHWESTERN UNIVERSITY — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: IRUELA-ARISPE, M. LUISA — NORTHWESTERN UNIVERSITY
- Study coordinator: IRUELA-ARISPE, M. LUISA
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.