Investigating C2 domain therapies for muscular dystrophy
Official title: C2 domain therapeutics for muscular dystrophy
Funded at University of Maryland Baltimore · NIH-10801119 · Data updated 2026-11-12
This study is looking at how changes in a gene called dysferlin affect muscle conditions like Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy, and it aims to find new ways to help muscles heal better by focusing on a special part of the dysferlin protein.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | July 30, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2024 |
| Award (this year) | $541,661 |
| NIH project number | 1R01AR082469-01A1 |
| Project ID | NIH-10801119 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Limb Girdle Muscular Dystrophy Type 2B or Miyoshi Myopathy.
✕Less likely to help
Patients with muscular dystrophy caused by mutations in genes other than dysferlin may not benefit from this research.
What this research studies
This research focuses on understanding how mutations in the dysferlin gene lead to conditions like Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy. The team is exploring the role of the C2A domain of dysferlin in muscle repair and calcium signaling, which are crucial for muscle function. By studying the unique properties of this domain, they aim to develop therapeutic strategies that could restore its function and improve muscle health. The approach involves creating chimeric proteins that can target specific areas in muscle cells to enhance their repair capabilities.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve muscle function and quality of life for patients with muscular dystrophy.
How similar studies have gone: While the specific approach of targeting the C2 domain is novel, similar strategies in muscle repair have shown promise in other research.
Where this research is happening
-
University of Maryland Baltimore
Baltimore, United States Active
Researchers
- Principal investigator: Bloch, Robert J — University of Maryland Baltimore
- Study coordinator: Bloch, Robert J
Related research
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MR clues to how nNOS affects energy use and blood flow in Becker and Duchenne muscular dystrophy
This project looks at how advanced MRI tests can track muscle energy and blood flow changes in people with Becker and Duchenne muscular dystrophy as new gene therapies are explored.
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.