Using a drug to improve protein function in children with genetic epilepsy
Promoting Protein Trafficking with 4-phenylbutyrate to Treat Genetic Epilepsy
This study is looking at how a medicine called 4-phenylbutyrate (PBA), which is already safe for kids, might help treat genetic epilepsy caused by changes in a specific gene, by fixing problems with brain proteins, and it could lead to new ways to help children with epilepsy and related conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project ID | NIH-11035127 on NIH RePORTER |
What this research studies
This research investigates the use of 4-phenylbutyrate (PBA), a drug already approved for pediatric use, to treat genetic epilepsy linked to mutations in the SLC6A1 gene. The study focuses on understanding how PBA can correct misfolded proteins and enhance their function in brain cells, particularly in astrocytes and inhibitory neurons. By utilizing advanced preclinical models, including patient-derived cell lines and genetically modified mice, the researchers aim to uncover the mechanisms behind protein misfolding and how PBA can restore normal protein activity. The findings could lead to new treatment options for children suffering from epilepsy and related neurodevelopmental disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who have genetic mutations associated with epilepsy and related conditions.
Not a fit: Patients with epilepsy not linked to SLC6A1 mutations or those outside the specified age range may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a new therapeutic option for children with genetic epilepsy, potentially improving their neurological function and quality of life.
How similar studies have performed: Previous research has shown promising results using similar approaches to address protein misfolding in genetic disorders, indicating potential for success in this study.
Where this research is happening
Nashville, United States
- Vanderbilt University Medical Center — Nashville, United States (Active)
Researchers
- Principal investigator: Kang, Jing-Qiong — Vanderbilt University Medical Center
- Study coordinator: Kang, Jing-Qiong
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.