A physician at Ann & Robert H. Lurie Children’s Hospital of Chicago is co-leading an international clinical trial of Dravet Syndrome gene therapy, which has shown promise in reducing seizures and could become the first gene regulation treatment for epilepsy.
Trial Targets Genetic Root Of Rare Epilepsy
Doctors in the United States and the United Kingdom are studying zorevunersen, also known as STK-001, as part of a clinical trial of Dravet Syndrome gene therapy in children and adolescents diagnosed with this rare and severe form of epilepsy, which is marked by frequent and debilitating seizures.
Clinical trials began in 2020. Early results from the first two phases, published Wednesday in The New England Journal of Medicine, show significant seizure reductions and improvements in other symptoms among some participants.
If approved by the U.S. Food and Drug Administration, the medication would become the first gene regulation therapy for epilepsy.
Dr. Linda Laux, an epilepsy attending physician who heads the Epilepsy Center at Lurie Children’s, is among the study’s leaders.
“Children with Dravet syndrome have a genetic mutation in the SCN1A or sodium channel receptor gene,” Laux said. “They have one normal SCN1A gene and one abnormal. What Dravet Syndrome gene therapy with zorevunersen does is make the normal SCN1A gene work harder to overcome the deficit caused by the abnormal gene.”
Laux called the study promising because it targets the underlying genetic cause of the disorder rather than only treating symptoms.
“It gives families hope in the medicine, because Dravet Syndrome gene therapy targets the underlying cause of the condition. They believe it can help address the many ways this sodium channel receptor mutation harms their child,” she said.
Early Results Show Seizure Reductions, Development Gains
A total of 81 patients ages 2 to 18 have participated in the clinical trial. As of last spring, 75 patients had enrolled in extension studies to continue treatment.
Among them is Owen, now 12, who once experienced as many as 300 seizures in a single day, according to his mother, Austin Watson.
“Owen’s first seizure was at three months old,” Watson said. “The topic of gene therapies or gene treatments has been a topic that we’ve been looking at as a community for a long time.”
Watson said her son’s seizures have dropped dramatically since joining the trial, and his development has accelerated.
“Owen has grown leaps and bounds,” she said. “Seizures have reduced dramatically. Developmentally, he’s growing exponentially.”
She said Owen now attends school in person and recently played on a general education basketball team with fifth- and sixth-grade students.
“For the first time since March of 2020, he is at a place where he’s able to attend school in person,” Watson said.
Phase Three Planned As FDA Review Looms
Families travel from across the country to participate. Watson said she and her son fly from Idaho to Chicago every four months for infusions.
“I would travel to Timbuktu if I needed to,” she said.
Researchers are preparing to launch the third phase of the clinical trial for Dravet Syndrome gene therapy, which is expected to last one year. Once completed, the findings will be submitted to the Food and Drug Administration for review.
Advocates say approval could mark a major milestone for epilepsy treatment and offer new hope to families affected by Dravet syndrome. Families seeking information and support can contact the Dravet Syndrome Foundation.
Visit Healthcare 360 Magazine For The Most Recent Information.
