Understanding how changes in smooth muscle cells contribute to aortic narrowing in children
Official title: Investigating altered smooth muscle cell mechanotransduction as a cause of supravalvular aortic stenosis
Funded at Washington University · NIH-10980564 · Data updated 2026-11-12
This study is looking at how changes in a specific gene might affect the aorta in children with supravalvular aortic stenosis (SVAS), a condition that can lead to serious heart problems, to help find new ways to treat it since there aren’t any medicines available right now.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | December 1, 2022 |
| Project end | November 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $388,750 |
| NIH project number | 5R01HL166448-03 |
| Project ID | NIH-10980564 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old diagnosed with supravalvular aortic stenosis.
✕Less likely to help
Patients with other forms of aortic stenosis not related to elastin mutations may not benefit from this research.
What this research studies
This research investigates supravalvular aortic stenosis (SVAS), a condition where the aorta narrows, increasing the risk of sudden cardiac death in children. The study focuses on how mutations in the elastin gene affect the mechanical properties of the aorta and the behavior of smooth muscle cells. By examining the role of mechanosensitive channels and calcium signaling in these cells, the researchers aim to uncover the biological mechanisms that lead to SVAS. The findings could pave the way for new therapeutic strategies, as there are currently no pharmaceutical treatments available for this condition.
Why it matters
Potential benefit: If successful, this research could lead to new treatment options for children suffering from supravalvular aortic stenosis.
How similar studies have gone: While the specific mechanisms of SVAS are not well-studied, similar research approaches in understanding vascular diseases have shown promise in other contexts.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Wagenseil, Jessica — Washington University
- Study coordinator: Wagenseil, Jessica
Related research
Other NIH-funded projects on the same topics.
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Investigating how stiffening of the aorta from elastin loss causes SVAS
A new NIH grant is exploring why elastin loss leads to supravalvular aortic stenosis and how abnormal smooth muscle cell signaling causes the aorta to narrow in children.
-
Risk prediction for aortic stenosis and how statins might help in adults 75 and older
This grant seeks to identify which adults over 75 are at high risk for aortic valve disease and how statin therapy could influence that risk.
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AI-powered screening and monitoring for aortic stenosis in older adults
A powerful new AI-based approach uses a simple heart rhythm test and a hand-held ultrasound to detect and monitor advanced aortic valve narrowing in people aged 65 and older.
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Linking normal aortic valve blood flow patterns to risk of aortic valve narrowing
This grant studies how normal differences in how the aortic valve moves and carries blood might influence who develops aortic stenosis.
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Chronic Kidney Disease and Aortic Valve Disease: Understanding How Kidney Disease Influences Aortic Stenosis
This grant looks at how chronic kidney disease may affect the progression of aortic stenosis and whether we can find ways to slow it down for adults with kidney issues.
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Advanced non-invasive imaging to understand aortic stenosis biology
Aging adults with aortic stenosis may benefit from new imaging-based research to slow disease progression and reduce need for valve procedures.
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.