Using 4‑phenylbutyrate to help GAT‑1 proteins work in genetic epilepsy
Promoting Protein Trafficking with 4-phenylbutyrate to Treat Genetic Epilepsy
This work uses the drug 4‑phenylbutyrate to help restore GAT‑1 protein function with the goal of reducing seizures and developmental problems in children with SLC6A1-related epilepsy.
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-11290424 on NIH RePORTER |
What this research studies
Researchers are studying how 4‑phenylbutyrate (PBA) can repair misfolded GAT‑1 proteins so they reach the cell surface and work properly. They will use patient-derived cell lines, a library of SLC6A1 mutations, and knockin mouse models to see how PBA changes protein trafficking and neuronal and astrocyte function. The team will integrate these lab findings with data from a promising pilot trial to identify which mutations respond and why. Results are intended to guide whether PBA could be used more broadly for children with SLC6A1-related epilepsy.
Who could benefit from this research
Good fit: Children (typically up to about 11 years old) with confirmed SLC6A1/GAT‑1 mutations who have seizures and/or developmental differences such as autism or intellectual disability are the most likely candidates.
Not a fit: People with epilepsy caused by other genes or mechanisms, or without SLC6A1/GAT‑1 mutations, are unlikely to benefit from this PBA-focused approach.
Why it matters
Potential benefit: If successful, this approach could improve seizure control and cognitive or behavioral outcomes in children with SLC6A1/GAT‑1 mutations by restoring normal protein activity.
How similar studies have performed: Early preclinical work and a small pilot trial show promising rescue of GAT‑1 function with PBA, but larger controlled studies are still needed to confirm clinical benefit.
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.