Targeting sodium channels to improve treatment for pediatric epilepsy
Official title: Targeting Alternative Splicing of Sodium Channels to Treat Pediatric Developmental Epileptic Encephalopathies
Funded at Tufts University Medford · NIH-11098645 · Data updated 2026-11-12
This study is testing a new treatment for kids with epilepsy caused by changes in the SCN8A gene, aiming to fix the genetic problem instead of just controlling seizures, using a special therapy that helps the body make healthier sodium channels.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Tufts University Medford NIH-funded |
| Lab location | 1 site (Boston, UNITED STATES) |
| Project start | June 1, 2024 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $558,531 |
| NIH project number | 5R01NS139468-02 |
| Project ID | NIH-11098645 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are pediatric patients diagnosed with SCN8A epilepsy who have mutations affecting the sodium channel.
✕Less likely to help
Patients with epilepsy not caused by SCN8A mutations or those who are adults may not benefit from this research.
What this research studies
This research focuses on developing a new treatment approach for pediatric patients suffering from epilepsy caused by mutations in sodium channels, particularly the SCN8A gene. The study aims to utilize a novel therapy that targets alternative splicing of the SCN8A gene to correct the underlying genetic issues rather than just managing seizures. By using antisense oligonucleotides (ASOs), the research seeks to switch the splicing from a mutated form to a healthy form, potentially restoring normal sodium channel function. This approach is particularly relevant for children who do not respond to existing anti-epileptic medications.
Why it matters
Potential benefit: If successful, this research could provide a new, effective treatment option for children with SCN8A-related epilepsy, improving their quality of life.
How similar studies have gone: While the approach of targeting alternative splicing is innovative, similar strategies have shown promise in other genetic disorders, indicating potential for success in this area.
Where this research is happening
-
Tufts University Medford
Boston, United States Active
Researchers
- Principal investigator: Oudin, Madeleine Julie — Tufts University Medford
- Study coordinator: Oudin, Madeleine Julie
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.