Restoring a working, internally shortened dystrophin protein for Duchenne muscular dystrophy
Official title: Assessment of restoration of an internally deleted dystrophin as a surrogate biomarker for future clinical trials of a gene editing therapy in Duchenne muscular dystrophy
Funded at Myogene Bio, LLC · NIH-11088094 · Data updated 2026-11-12
This project looks at a gene-editing approach delivered by AAV that creates a shortened but working dystrophin to help people with Duchenne muscular dystrophy.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Myogene Bio, LLC NIH-funded |
| Lab location | 1 site (San Diego, UNITED STATES) |
| Project start | September 1, 2025 |
| Project end | August 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $302,500 |
| NIH project number | 1R21HD117763-01 |
| Project ID | NIH-11088094 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal future trial candidates would be people with Duchenne muscular dystrophy whose genetic mutations can be corrected by deleting exons 45–55 (approximately half of DMD patients), typically younger individuals before severe, irreversible muscle loss.
✕Less likely to help
People whose DMD mutations are outside the exon 45–55 region or who already have advanced, irreversible muscle damage are unlikely to benefit from this specific approach.
What this research studies
Researchers will use humanized mice that carry the DMD gene and give them different doses of an AAV9-delivered CRISPR therapy (MyoDys45-55) designed to delete exons 45–55 and restore a shortened dystrophin protein. They will perform non-invasive functional tests and physiological measurements to see how muscle performance changes after treatment. The team will measure how much of the restored dystrophin is made in muscle and compare those levels to the functional results. These data will guide dose choices and help validate the exon 45–55 deleted dystrophin as a biomarker for future human trials.
Why it matters
Potential benefit: If successful, this work could help pick safe and effective doses for future human trials and support using the restored dystrophin as a marker to predict clinical benefit for many Duchenne patients.
How similar studies have gone: AAV-delivered microdystrophin and exon-skipping approaches have shown some clinical promise, but AAV-delivered CRISPR exon-deletion to restore a larger internally deleted dystrophin remains mainly at the preclinical stage and is largely untested in people.
Where this research is happening
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Myogene Bio, LLC
San Diego, United States Active
Researchers
- Principal investigator: Young, Courtney S — Myogene Bio, LLC
- Study coordinator: Young, Courtney S
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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.