New treatments for KCNC1-related progressive myoclonus epilepsy (EPM7)
Mechanistically-oriented therapy for a progressive myoclonus epilepsy
The team is developing a drug that activates Kv3 potassium channels to try to reduce seizures and improve balance and movement in people with KCNC1-related progressive myoclonus epilepsy (EPM7).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11318927 on NIH RePORTER |
What this research studies
This project focuses on EPM7, a severe form of progressive myoclonus epilepsy caused by changes in the KCNC1 gene that affect Kv3.1 potassium channels. Researchers will use newly developed lab tools and experimental models to see how loss of Kv3.1 function disrupts fast‑firing brain cells and circuits that control movement and prevent seizures. They will test a potent, specific Kv3 activator to determine whether it corrects cellular and synaptic problems and reduces seizure susceptibility and cerebellar dysfunction in these models. The work aims to point toward a drug strategy that could eventually be tested in people with KCNC1-related disease.
Who could benefit from this research
Good fit: Ideal candidates are people (often children or young adults) diagnosed with KCNC1-related progressive myoclonus epilepsy (EPM7) or known to carry the pathogenic KCNC1 variant.
Not a fit: People whose epilepsy is not caused by KCNC1 variants or whose symptoms arise from unrelated mechanisms are unlikely to benefit from this specific Kv3-targeted approach.
Why it matters
Potential benefit: If successful, this work could lead to a medicine that lowers seizure risk and improves coordination and mobility for people with KCNC1-related EPM7.
How similar studies have performed: This is a mechanism-driven and relatively novel approach with some encouraging preclinical evidence for Kv3 activators normalizing fast-spiking neurons, but it has not yet been proven in people with EPM7.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Goldberg, Ethan M — Children's Hosp of Philadelphia
- Study coordinator: Goldberg, Ethan M
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.