Finding ways to treat Lesch-Nyhan Disease
Rescue of Lesch-Nyhan Disease
This study is looking at ways to help people with Lesch-Nyhan Disease by finding the best time to use treatments that could fix a key enzyme affected by their genetic condition, with the hope of improving their motor skills and reducing harmful behaviors.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-10927223 on NIH RePORTER |
What this research studies
This research focuses on Lesch-Nyhan Disease (LND), a neurodevelopmental disorder that leads to motor impairments, intellectual disabilities, and severe self-injurious behaviors. The study aims to understand how interventions can restore the function of a critical enzyme affected by genetic mutations, potentially improving the lives of those with LND. By using cell and animal models, researchers will explore the timing of these interventions to determine the best age for treatment to reverse developmental and neurological issues. The goal is to translate these findings into effective therapies for patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Lesch-Nyhan Disease, particularly those experiencing severe symptoms.
Not a fit: Patients with other neurodevelopmental disorders unrelated to Lesch-Nyhan Disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve the quality of life for individuals with Lesch-Nyhan Disease.
How similar studies have performed: Previous research has shown promise in understanding the mechanisms of Lesch-Nyhan Disease, but this specific approach to intervention timing is novel.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Jinnah, Hyder a — Emory University
- Study coordinator: Jinnah, Hyder a
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.