Investigating a genetic disorder affecting the brain's ability to produce essential RNA molecules.
Official title: Studies on RNA polymerase III-related leukodystrophy
Funded at Albert Einstein College of Medicine · NIH-10911371 · Data updated 2026-11-12
This study is looking at a genetic condition called RNA polymerase III-related leukodystrophy that affects kids' brains and bodies, and it's using a special mouse model to learn more about how the disease works and to find possible treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $669,913 |
| NIH project number | 5R01NS129951-02 |
| Project ID | NIH-10911371 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation are children aged 12-20 years diagnosed with RNA polymerase III-related leukodystrophy.
✕Less likely to help
Patients with other forms of leukodystrophy or those outside the specified age range may not benefit from this research.
What this research studies
This research focuses on understanding RNA polymerase III-related leukodystrophy, a genetic disorder that affects the central nervous system, particularly in children. The study aims to explore how mutations in RNA polymerase III lead to neurological and non-neurological symptoms, including developmental delays and ataxia. Researchers are utilizing a newly developed mouse model that mimics the disease's clinical features to investigate the underlying mechanisms and potential treatment options. By studying these mechanisms, the research seeks to pave the way for future therapeutic strategies.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for children suffering from this debilitating disorder.
How similar studies have gone: While research on RNA polymerase III-related disorders is limited, the development of a mouse model represents a novel approach that could lead to significant advancements in understanding and treating this condition.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Willis, Ian M — Albert Einstein College of Medicine
- Study coordinator: Willis, Ian 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.