UCSF trial offers hope for children with Dravet syndrome, rare and severe childhood epilepsy

SAN FRANCISCO (KGO) — Ten-year-old Oli and his family have spent much of his young life searching for the missing piece of a puzzle: a treatment for a debilitating form of childhood epilepsy known as Dravet syndrome. The condition produces convulsive seizures that can strike with little notice and can be triggered by a wide range of factors, from temperature changes to color patterns to sunlight.

Oli’s mom, Lindsay Dagan, said once the seizures start, they can be difficult to stop.

“We were in the hospital every week with seizures. His seizures wouldn’t stop on their own, so we’d have to give rescue meds, often multiple doses that still wouldn’t stop the seizure. And we’d have to call ambulances to take us to the hospital,” she said.

Oli is not alone. Over the past decade, we have followed the journey of several families battling Dravet as researchers at UCSF and elsewhere tested treatments ranging from cannabis-based medications to potential drug therapies aimed at calming the seizures. At its worst, the syndrome left Oli barely able to attend school or play regularly with other kids.

“So it was really hard for him to have any friends at all, because we had to kind of shelter him from everything,” Lindsay said.

But now, Oli and his family finally have new hope. They are participating in a clinical trial led by UCSF pediatric neurologist and epilepsy specialist Nilika Singhal, M.D. She said the experimental drug developed by Stoke Therapeutics, known as STK001 or Zorevunersen, does not just mask seizure symptoms. Instead, it aims to replace the function of a defective gene believed to cause Dravet syndrome, a gene that is inherited in pairs.

“With this medication, the beauty is that people with Dravet syndrome still have one intact, functioning copy of the gene. And so what happens is that this medication is able to enhance the function of the good copy to hopefully overcompensate and overcome the lack of production from the mutated copy,” Singhal said.

The drug is now in Phase 3 of the clinical trial, with earlier rounds showing an 87% drop in seizure frequency at eight months.

“This is absolutely a breakthrough, and it is very pivotal for this condition and hopefully many others too,” Singhal said.

For Oli, Lindsay said she remembers the seizures that regularly sent him to the hospital, the exhausting toll on his body, and the isolation of not being able to play with friends. Those memories feel farther away now, with his seizures far more controlled, allowing him to participate in activities like baseball, swimming and basketball.

“He got to be one of the first kids in this trial. We have been in the trial now for over four years, and it has been life-changing for us,” she said.

Researchers are still working to document the long-term improvements. But if the trial continues successfully, it could be a life-changing advance for families who have waited desperately for answers.

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