Treating a genetic metabolic brain disorder that affects young children's brain growth and movement
Mechanisms of Disease and Treatment in Novel Metabolic Developmental Brain Disorders
This project aims to develop dietary and supplement approaches to help children with a GPT2-related metabolic brain disorder.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brown University NIH-funded |
| Lab location | 1 site (Providence, United States) |
| Project ID | NIH-11235108 on NIH RePORTER |
What this research studies
I learned that some children have mutations in a mitochondrial enzyme called GPT2 that lead to slow postnatal brain growth and progressive spastic leg weakness. The team is studying how GPT2 helps neurons make alanine and refill key energy cycle components needed for cell growth. They will use laboratory and animal models plus biochemical studies to test whether changing diet or giving supplements can restore those metabolites and improve neuronal growth. The preclinical results will be used to guide possible treatments for affected children.
Who could benefit from this research
Good fit: Children diagnosed with GPT2 loss-of-function mutations, particularly infants and young children with slowed brain growth and progressive spastic paraplegia, are the most relevant group.
Not a fit: People whose neurological problems are not caused by GPT2 mutations or who have non-metabolic causes of their symptoms are unlikely to benefit from these interventions.
Why it matters
Potential benefit: If successful, this work could lead to dietary or supplement therapies that improve brain growth and reduce spasticity in children with GPT2 mutations.
How similar studies have performed: Dietary or supplement treatments have helped some metabolic brain disorders (for example PKU), but GPT2-targeted therapies are new and mostly untested in humans, with promising preclinical evidence.
Where this research is happening
Providence, United States
- Brown University — Providence, United States (Active)
Researchers
- Principal investigator: Morrow, Eric M — Brown University
- Study coordinator: Morrow, Eric M
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.