Investigating the role of smooth muscle alpha-actin in pediatric vascular diseases
Official title: A novel nuclear role for smooth muscle alpha-actin
Funded at University of Texas Hlth Sci Ctr Houston · NIH-10945782 · Data updated 2026-11-12
This study is looking at how certain gene changes might cause serious blood vessel problems in kids, especially moyamoya disease, which can lead to strokes, and it aims to find new ways to help by closely watching patients with these gene changes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Sci Ctr Houston NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | August 1, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $563,128 |
| NIH project number | 1R01HL175148-01 |
| Project ID | NIH-10945782 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who have been diagnosed with moyamoya disease or have specific ACTA2 genetic variants.
✕Less likely to help
Patients who do not have the identified ACTA2 variants or who are over the age of 11 may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic variants in the smooth muscle alpha-actin gene (ACTA2) contribute to serious vascular conditions in children, particularly moyamoya disease, which can lead to strokes. The researchers will use advanced techniques, including CRISPR, to study how these genetic changes affect the behavior of smooth muscle cells in blood vessels. By examining the development and function of these cells, the study aims to uncover the mechanisms behind the disease and identify potential therapeutic targets. Patients with certain genetic variants will be closely monitored to assess the impact of these findings on their health.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that prevent or mitigate strokes in children with moyamoya disease.
How similar studies have gone: Previous research has shown promising results in understanding genetic factors in vascular diseases, but this specific approach using ACTA2 variants is relatively novel.
Where this research is happening
-
University of Texas Hlth Sci Ctr Houston
Houston, United States Active
Researchers
- Principal investigator: Kwartler, Callie S — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Kwartler, Callie S
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.