Gene therapy for a specific muscle and heart condition caused by SLC25A4 deficiency
Official title: Evaluation of adeno-associated viral (AAV) mediated gene replacement therapy as a therapeutic option for SLC25A4 deficiency
Funded at Duke University · NIH-10934320 · Data updated 2026-11-12
This study is testing a new gene therapy that aims to help people with SLC25A4 deficiency, a condition that causes serious muscle and heart issues, by delivering a healthy gene to improve energy in their muscles and heart.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project start | July 1, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $83,392 |
| NIH project number | 5F32HL167559-02 |
| Project ID | NIH-10934320 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with SLC25A4 deficiency who experience muscle weakness and heart issues.
✕Less likely to help
Patients with other forms of muscle or heart diseases unrelated to SLC25A4 deficiency may not benefit from this research.
What this research studies
This research investigates a new gene therapy approach to treat SLC25A4 deficiency, a genetic condition that leads to severe muscle and heart problems. The therapy uses adeno-associated viruses (AAV) to deliver a healthy copy of the gene responsible for producing a crucial protein in muscle cells. By restoring the function of this protein, the research aims to improve energy metabolism in affected tissues, potentially alleviating symptoms like muscle weakness and heart dysfunction. Patients will be monitored for improvements in their condition as the therapy is developed and tested.
Why it matters
Potential benefit: If successful, this research could provide a novel treatment option that modifies the disease course for patients with SLC25A4 deficiency.
How similar studies have gone: Previous research has shown promise in using AAV-mediated gene therapies for other genetic disorders, indicating potential success for this approach.
Where this research is happening
-
Duke University
Durham, United States Active
Researchers
- Principal investigator: Benkert, Abigail — Duke University
- Study coordinator: Benkert, Abigail
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.