Developing a gene therapy for mitochondrial diseases using a mouse model
Official title: First murine animal model and adeno-associated virus (AAV)-based gene therapy for MTATP6 mitochondrial diseases
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11109888 · Data updated 2026-11-12
This study is working on a new way to help people with mitochondrial diseases caused by a specific gene problem by using a special virus to deliver a healthy version of that gene, which could lead to better treatments for those affected.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | August 1, 2024 |
| Project end | June 30, 2027 |
| Funding year | 2024 |
| Award (this year) | $249,000 |
| NIH project number | 4R00HD109359-03 |
| Project ID | NIH-11109888 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with mitochondrial diseases linked to MTATP6 mutations.
✕Less likely to help
Patients with mitochondrial diseases caused by other genetic mutations unrelated to MTATP6 may not benefit from this research.
What this research studies
This research focuses on creating a new mouse model for mitochondrial diseases caused by mutations in the MTATP6 gene, which currently lacks effective treatments. The approach involves using adeno-associated virus (AAV) technology to deliver a healthy copy of the MTATP6 gene to the mitochondria, aiming to restore ATP production in affected cells. By first establishing this animal model, researchers can better understand the disease and test the effectiveness of the gene therapy. This innovative method could pave the way for future therapies for patients suffering from these debilitating conditions.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking gene therapy that provides a treatment option for patients with neurological mitochondrial diseases.
How similar studies have gone: Previous research has shown promise with AAV-based gene therapies in treating other inherited diseases, indicating potential for success in this novel approach.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Ling, Qinglan — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Ling, Qinglan
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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.