A new treatment for mitochondrial disorders in young children
Official title: A New Therapy for Neurodevelopmental Mitochondrial Disorders
Funded at Icahn School of Medicine at Mount Sinai · NIH-10889550 · Data updated 2026-11-12
This study is testing a new drug that aims to help children with mitochondrial disorders by improving their metabolism, especially for those diagnosed early in life, to see if it can prevent serious brain problems.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $105,625 |
| NIH project number | 1R21NS133826-01A1 |
| Project ID | NIH-10889550 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with mitochondrial disorders, particularly those showing symptoms in the neonatal or early infantile periods.
✕Less likely to help
Patients who are older than three years or those without mitochondrial disorders may not benefit from this research.
What this research studies
This research investigates a novel drug designed to support metabolism in children with mitochondrial disorders, particularly focusing on those diagnosed during pregnancy or early infancy. The study utilizes a mouse model to explore how this drug can improve metabolic pathways, specifically the Krebs cycle, which is crucial for brain development. By understanding glucose metabolism in these models, the research aims to identify effective treatment strategies that could be translated to human patients. The ultimate goal is to provide a therapeutic option that could prevent severe neurological defects in affected infants.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment that improves survival and quality of life for infants with mitochondrial disorders.
How similar studies have gone: While there have been advancements in prenatal diagnosis of mitochondrial disorders, this specific approach to treatment is novel and has not been extensively tested in human subjects.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Marin-Valencia, Isaac — Icahn School of Medicine at Mount Sinai
- Study coordinator: Marin-Valencia, Isaac
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.