Targeting specific mutations to treat a genetic muscle disorder
Official title: Allele Specific Knockdown for LGMDD1
Funded at Washington University · NIH-11059246 · Data updated 2026-11-12
This study is working on a new treatment for people with limb girdle muscular dystrophy D1, a muscle disorder caused by a gene problem, by targeting the harmful version of the gene while keeping the healthy part intact, to help improve muscle function and ease symptoms.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | March 21, 2024 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $491,100 |
| NIH project number | 5R01NS134506-02 |
| Project ID | NIH-11059246 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with limb girdle muscular dystrophy D1 caused by mutations in the DNAJB6 gene.
✕Less likely to help
Patients with other forms of muscular dystrophy or those without DNAJB6 mutations may not benefit from this research.
What this research studies
This research focuses on developing new therapies for limb girdle muscular dystrophy D1 (LGMDD1), a genetic muscle disorder caused by mutations in the DNAJB6 gene. The approach involves selectively knocking down the harmful mutant form of DNAJB6 while preserving the normal gene function, which is crucial for muscle health. By using advanced gene therapy techniques, the researchers aim to create a treatment that can alleviate the symptoms of this debilitating condition. This project seeks to address a significant gap in treatment options for patients with dominant muscular dystrophies.
Why it matters
Potential benefit: If successful, this research could lead to effective therapies for patients suffering from LGMDD1, improving their quality of life.
How similar studies have gone: While gene therapy for muscular dystrophies is an emerging field, this specific approach targeting dominant mutations is novel and has not been extensively tested in previous studies.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Findlay, Andrew — Washington University
- Study coordinator: Findlay, Andrew
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.