Switching sodium channel RNA to treat childhood SCN8A epilepsy
Official title: Targeting Alternative Splicing of Sodium Channels to Treat Pediatric Developmental Epileptic Encephalopathies
Funded at Tufts University Medford · NIH-11285278 · Data updated 2026-11-12
Using a targeted genetic medicine called an antisense oligonucleotide (ASO) to change how the SCN8A sodium channel gene is read, hoping to reduce seizures in children with SCN8A-related epileptic encephalopathy.
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 | 2026 |
| Award (this year) | $611,005 |
| NIH project number | 5R01NS139468-03 |
| Project ID | NIH-11285278 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children (and possibly young adults) with genetically confirmed SCN8A epileptic encephalopathy who have mutations affecting exon 5 would be the most suitable candidates.
✕Less likely to help
People without SCN8A mutations or with pathogenic variants located outside exon 5 are unlikely to benefit from this specific splice-switching ASO.
What this research studies
Researchers are developing an ASO that shifts splicing of the SCN8A gene to favor a healthy exon version instead of a mutated exon 5, without lowering overall protein levels. The work focuses on the developmentally regulated switch between the 5N (neonatal) and 5A (adult) exons and how that affects sodium channel activity. The team will test the ASO in cells and animal models to measure effects on channel function, seizure-like activity, safety, and dosing. Successful preclinical results would support moving toward early human testing at Tufts or partner sites.
Why it matters
Potential benefit: If successful, this approach could reduce seizures and correct the underlying sodium channel defect for children with SCN8A exon 5 mutations, potentially improving development and quality of life.
How similar studies have gone: Splice-switching ASO therapies have shown clear success for other genetic brain disorders like spinal muscular atrophy, but using this exact exon-5 splice switch for SCN8A is novel and largely preclinical.
Where this research is happening
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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.