Gene therapy to treat a type of Charcot-Marie-Tooth disease
Official title: tRNA Gene Replacement Therapy for tRNA-Synthetase Related Charcot-Marie-Tooth Disorder
Funded at Jackson Laboratory · NIH-10872352 · Data updated 2026-11-12
This study is working on a new treatment for Charcot-Marie-Tooth disease type 2D that uses a special virus to deliver a healthy gene to help fix the problem in your nerves, and it's currently being tested in mice before it can be tried in people.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $430,265 |
| NIH project number | 1R61NS136651-01 |
| Project ID | NIH-10872352 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Charcot-Marie-Tooth disease type 2D, particularly those with mutations in the glycyl tRNA synthetase gene.
✕Less likely to help
Patients with other forms of Charcot-Marie-Tooth disease or those without genetic mutations related to glycyl tRNA synthetase may not benefit from this research.
What this research studies
This research focuses on developing a gene replacement therapy for Charcot-Marie-Tooth disease type 2D, which is caused by mutations in the glycyl tRNA synthetase gene. The approach involves using a viral vector (AAV9) to deliver a specific tRNA gene that can help restore normal protein synthesis in affected cells. By targeting the underlying genetic cause of the disease, the therapy aims to alleviate symptoms and improve nerve function. The research includes testing this therapy in mouse models to evaluate its effectiveness before considering human trials.
Why it matters
Potential benefit: If successful, this research could provide a novel treatment option for patients suffering from Charcot-Marie-Tooth disease type 2D, potentially improving their quality of life.
How similar studies have gone: Preliminary studies using similar gene therapy approaches have shown promising results in animal models, indicating potential for success in human applications.
Where this research is happening
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Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Burgess, Robert W. — Jackson Laboratory
- Study coordinator: Burgess, Robert W.
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.