Investigating a genetic cause of childhood brain disorders affecting movement and cognition
Official title: Childhood-onset hypomyelinating leukodystrophy and the multi-tRNA synthetase complex
Funded at Cleveland Clinic Lerner Com-Cwru · NIH-10994143 · Data updated 2026-11-12
This study is looking at a rare brain condition in children that affects their movement and thinking, and it aims to find specific genetic changes that might cause this condition, so we can better understand it and work towards new treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cleveland Clinic Lerner Com-Cwru NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project start | December 15, 2022 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $563,973 |
| NIH project number | 5R01NS124581-03 |
| Project ID | NIH-10994143 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who exhibit symptoms of cognitive and motor impairments associated with hypomyelinating leukodystrophy.
✕Less likely to help
Patients with other forms of neurodegenerative diseases that do not involve hypomyelination may not benefit from this research.
What this research studies
This research focuses on childhood-onset hypomyelinating leukodystrophy (HLD), a group of neurodegenerative diseases that lead to reduced myelin formation in the brain, resulting in cognitive and motor impairments in children. The study aims to identify genetic mutations, particularly in the EPRS1 gene, that contribute to these conditions. By analyzing the genetic profiles of affected children and their families, the researchers hope to better understand the disease mechanisms and potentially develop targeted therapies. The approach includes whole exome sequencing and functional studies of the identified mutations to assess their impact on protein function.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for children suffering from HLD, enhancing their quality of life.
How similar studies have gone: Previous research has shown promise in identifying genetic causes of similar neurodegenerative conditions, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Cleveland Clinic Lerner Com-Cwru
Cleveland, United States Active
Researchers
- Principal investigator: Fox, Paul L — Cleveland Clinic Lerner Com-Cwru
- Study coordinator: Fox, Paul L
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.