Gene Therapy for the Catastrophic Type 1 Progressive Myoclonus Epilepsy (EPM1)

Progressive myoclonus-epilepsies (PME) are a group of rare, catastrophic epilepsies, progressively leading to intractable seizures, neurodegeneration, and death. Unverricht-Lundborg disease, a type of PME, was first described in 1891 and presents in previously healthy children who before their teenage years develop seizures and jerks that worsen over time. The disease is caused by mutations in a gene called cystatin B (CSTB). In preliminary studies, Dr. Minassian’s team showed that replacing this gene in a genetic mouse model lacking the gene can improve the neurological features and brain pathology associated with the disease. For their project, the team aims to complete a full gene replacement therapy study in mice. Armed with the results, in the next phase, they propose to approach regulatory agencies for permission to conduct a clinical trial. Results from this project will lead to initial data on a possible treatment for a devastating form of epilepsy. The data could also inform therapeutic development for related epilepsies as well as others caused by single genes where a similar approach could be successful.