Investigating a genetic cause of a specific muscle disease
Official title: Mechanistic and Translational Investigations of HSPB8-associated dominant rimmed vacuolar myopathy
Funded at University of California-Irvine · NIH-10818280 · Data updated 2026-11-12
This study is looking at how changes in a specific gene cause a rare muscle disease and is testing new treatments that might help improve muscle function and quality of life for people with this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project start | September 20, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $368,764 |
| NIH project number | 1R21AR080407-01A1 |
| Project ID | NIH-10818280 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with HSPB8-associated dominant rimmed vacuolar myopathy or those with mutations in the HSPB8 gene.
✕Less likely to help
Patients without HSPB8 mutations or those with other forms of muscle diseases may not benefit from this research.
What this research studies
This research focuses on understanding how mutations in the HSPB8 gene lead to a rare muscle disease known as dominant rimmed vacuolar myopathy. The study aims to explore the mechanisms behind the disease and evaluate potential new treatments that could slow down or stop its progression. Researchers will use patient-derived cells and a specially designed mouse model to test these treatments and gain insights into the disease's biology. By enhancing the body's ability to remove misfolded proteins, the research seeks to improve muscle function and quality of life for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that significantly improve muscle function and quality of life for patients with HSPB8-associated myopathy.
How similar studies have gone: While research on HSPB8 mutations is ongoing, this specific approach using patient-derived cells and CRISPR technology is relatively novel and has not been extensively tested.
Where this research is happening
-
University of California-Irvine
Irvine, United States Active
Researchers
- Principal investigator: Kimonis, Virginia Eunice — University of California-Irvine
- Study coordinator: Kimonis, Virginia Eunice
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.