A New Treatment for Childhood Mitochondrial Brain Conditions
A New Therapy for Neurodevelopmental Mitochondrial Disorders
This project looks for new ways to help children with severe mitochondrial disorders, especially those who show symptoms very early in life.
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 ID | NIH-11145119 on NIH RePORTER |
What this research studies
Many children with mitochondrial disorders face severe challenges, often developing symptoms early and having a very short lifespan. Currently, there are no approved treatments for these conditions during pregnancy, which means many babies are born with serious brain problems. Our team has found a promising new medication that could support metabolism during pregnancy and after birth, tested in a mouse model of a common mitochondrial disease called pyruvate dehydrogenase deficiency (PDHD). This medication aims to address the metabolic issues that lead to brain defects and other severe symptoms in affected children. We hope to find a way to improve the health and future of these vulnerable children.
Who could benefit from this research
Good fit: This research is focused on understanding and treating severe mitochondrial disorders that affect children, particularly those with early onset and conditions like pyruvate dehydrogenase deficiency (PDHD).
Not a fit: Patients with mitochondrial disorders that manifest later in life or respond to existing treatments may not directly benefit from this specific early-intervention approach.
Why it matters
Potential benefit: If successful, this work could lead to the first effective treatments for severe mitochondrial disorders, potentially improving brain development and survival for affected children.
How similar studies have performed: While prenatal diagnosis has advanced, there are currently no approved treatments for mitochondrial diseases during pregnancy, making this approach novel.
Where this research is happening
New York, United States
- 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 below.