Understanding how a specific enzyme affects blood vessel development and disorders.

Sphingosine kinase 1 plays a key role in defective elastin-induced arterial hypermuscularization

NIH-funded research Yale University · NIH-11055294

This study is looking at how a specific protein affects heart problems in kids caused by issues with a gene that helps make elastin, which is important for healthy blood vessels, and it hopes to find new ways to help improve blood flow and prevent serious heart conditions.

Quick facts

Grant typeCareer grant
Study typeNIH-funded research
Funding institutionYale University NIH-funded
Lab location1 site (New Haven, United States)
Project IDNIH-11055294 on NIH RePORTER

What this research studies

This research investigates the role of sphingosine kinase 1 in the development of arterial conditions related to elastin deficiencies, particularly in children. It focuses on how mutations in the elastin gene can lead to serious heart issues, such as supravalvular aortic stenosis and patent ductus arteriosus. By studying the mechanisms behind smooth muscle cell accumulation in these conditions, the research aims to identify potential therapeutic strategies to manage or prevent these heart defects. Patients may benefit from insights into how to improve blood flow and reduce complications associated with these vascular disorders.

Who could benefit from this research

Good fit: Ideal candidates for this research are children under 11 years old who have been diagnosed with conditions like supravalvular aortic stenosis or patent ductus arteriosus.

Not a fit: Patients with heart conditions unrelated to elastin deficiencies or those over 11 years old may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to new treatments for children with heart defects related to elastin deficiencies.

How similar studies have performed: Previous research has shown promising results in understanding the role of similar biological pathways in vascular development, suggesting that this approach may yield valuable insights.

Where this research is happening

New Haven, 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.
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.