Understanding how changes in smooth muscle cells contribute to aortic narrowing in children

Investigating altered smooth muscle cell mechanotransduction as a cause of supravalvular aortic stenosis

NIH-funded research Washington University · NIH-10980564

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 typeR01 grant
Study typeNIH-funded research
Funding institutionWashington University NIH-funded
Lab location1 site (Saint Louis, United States)
Project IDNIH-10980564 on NIH RePORTER

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.

Who could benefit from this research

Good fit: Ideal candidates for this research are children under 11 years old diagnosed with supravalvular aortic stenosis.

Not a fit: Patients with other forms of aortic stenosis not related to elastin mutations may not benefit from this research.

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 performed: 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

Saint Louis, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions blood vessel disorder
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.