Understanding liver problems caused by LIPT1 deficiency
Official title: Uncovering the mechanistic drivers of hepatic dysfunction in LIPT1 deficiency
Funded at Ut Southwestern Medical Center · NIH-11164042 · Data updated 2026-11-12
This study is looking at how a genetic condition called LIPT1 deficiency affects the liver in children, hoping to find clues about what goes wrong with their metabolism and how it might help us develop better treatments.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | May 1, 2025 |
| Project end | April 30, 2029 |
| Funding year | 2025 |
| Award (this year) | $43,127 |
| NIH project number | 1F30DK142445-01A1 |
| Project ID | NIH-11164042 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with LIPT1 deficiency or related inborn errors of metabolism.
✕Less likely to help
Patients with metabolic disorders unrelated to lipoic acid metabolism may not benefit from this research.
What this research studies
This research investigates the underlying mechanisms of liver dysfunction in patients with LIPT1 deficiency, a genetic condition that affects metabolism and can lead to severe health issues in children. The study aims to identify specific metabolites that accumulate or are deficient in these patients, which could provide insights into potential therapeutic interventions. By examining how lipoic acid metabolism impacts critical enzymes in the liver, the research seeks to improve understanding of this condition and its effects on growth and neurodevelopment.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic and therapeutic options for children suffering from LIPT1 deficiency.
How similar studies have gone: Previous research on metabolic disorders has shown promise in identifying therapeutic targets, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Cervantes, Margaret Brecker — Ut Southwestern Medical Center
- Study coordinator: Cervantes, Margaret Brecker
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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.