Understanding how altered citric acid cycle fuels may help kids and adults with Complex I mitochondrial disease
Official title: Investigating Citric Acid Cycle Perturbations in Complex I Deficient Mitochondrial Encephalopathy
Funded at University of South Carolina at Columbia · NIH-11607994 · Data updated 2026-11-12
A small study will look at how changes in the citric acid cycle and a molecule called 2-HG affect people with Complex I–related mitochondrial disease, to identify potential new treatment strategies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of South Carolina at Columbia NIH-funded |
| Lab location | 1 site (Columbia, United States) |
| Project start | September 2, 2026 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $372,500 |
| NIH project number | 2R56NS126851-05 |
| Project ID | NIH-11607994 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Complex I–related mitochondrial disease or related metabolic disturbances (e.g., 2-HG pathway involvement) who can provide plasma samples.
✕Less likely to help
Participants without Complex I–related biochemical disturbances may not experience direct benefit.
What this research studies
This project builds on previous work in a mouse model of Complex I deficiency and aims to translate findings to humans by examining metabolites in patient plasma. It will explore whether 2-HG can serve as an alternative fuel to support cellular respiration and whether other metabolites can be leveraged for therapy. By analyzing biochemical changes in people with mitochondrial disease, the study seeks to uncover mechanisms driving neuronal decline beyond energy shortfalls. The research will use human samples and targeted metabolic analyses to test new therapeutic ideas in a condition with limited treatment options.
Why it matters
Potential benefit: If successful, the work could point to new metabolic targets or therapies that support brain energy in mitochondrial disease.
How similar studies have gone: Previous work in a mouse model suggested metabolic rewiring; translating to humans is exploratory but has precedent in metabolic disease research.
Where this research is happening
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University of South Carolina at Columbia
Columbia, United States Active
Researchers
- Principal investigator: Frizzell, Norma — University of South Carolina at Columbia
- Study coordinator: Frizzell, Norma
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.