Using low oxygen to treat Leigh syndrome
Preventing and Reversing Mitochondrial Leigh Syndrome with Hypoxia
This study is looking at how low oxygen levels might help kids with Leigh syndrome feel better and even improve their condition, with the hope of finding new treatments for this serious mitochondrial disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10992144 on NIH RePORTER |
What this research studies
This research investigates how low oxygen levels, or hypoxia, can help prevent and even reverse the effects of Leigh syndrome, a severe mitochondrial disease affecting children. The study will explore the mechanisms behind this effect using advanced techniques like single cell genomics and mouse models. By understanding how hypoxia influences mitochondrial function, the researchers aim to identify potential drug therapies that could be developed for patients suffering from this condition. The ultimate goal is to improve treatment options for Leigh syndrome and similar mitochondrial diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Leigh syndrome or other mitochondrial diseases.
Not a fit: Patients with mitochondrial diseases not related to Leigh syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve the quality of life for patients with Leigh syndrome.
How similar studies have performed: While the approach of using hypoxia is novel, preliminary findings in animal models suggest potential success in reversing neurodegeneration.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Mootha, Vamsi Krishna — Massachusetts General Hospital
- Study coordinator: Mootha, Vamsi Krishna
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 below.