Investigating a genetic cause of severe muscle weakness in infants
Official title: Nuclear skeletal muscle alpha-actin and intranuclear rod myopathy
Funded at University of Texas Hlth Sci Ctr Houston · NIH-10936349 · Data updated 2026-11-12
This study is looking at how changes in a specific gene can cause a serious muscle condition in babies that leads to weakness, and it aims to find out how this gene affects muscle development so that new treatments can be discovered.
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 | July 1, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2024 |
| Award (this year) | $437,154 |
| NIH project number | 1R01AR084437-01 |
| Project ID | NIH-10936349 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with intranuclear rod myopathy or those with known mutations in the ACTA1 gene.
✕Less likely to help
Patients with other forms of congenital myopathy not related to ACTA1 mutations may not benefit from this research.
What this research studies
This research focuses on understanding how mutations in the ACTA1 gene lead to a severe form of congenital myopathy known as intranuclear rod myopathy, which causes muscle weakness and can be life-threatening in infants. The study aims to explore the role of skeletal muscle-specific alpha-actin in muscle cell development and how its dysfunction contributes to the disease. By analyzing muscle biopsies and using advanced techniques like CRISPR and ATAC sequencing, researchers hope to uncover the mechanisms behind this condition and identify potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for infants suffering from intranuclear rod myopathy, potentially improving their muscle function and survival.
How similar studies have gone: While the specific approach of this research is novel, previous studies have shown promise in understanding congenital myopathies through genetic analysis and targeted therapies.
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.