Latest Drug Offers Hope for Children with Dravet Syndrome

An experimental therapy for children with a severe and difficult-to-treat form of epilepsy appears to be both safe and highly effective at reducing seizures, according to results from an international clinical trial led by University College London (UCL) and Great Ormond Street Hospital. The findings suggest the treatment could significantly improve the health and daily lives of affected children.

Understanding Dravet Syndrome

Dravet syndrome is a rare and severe genetic epilepsy that causes frequent seizures that are often difficult to control. It typically begins in the first year of life and is likewise linked to long-term neurodevelopmental challenges, feeding problems, movement difficulties, and a higher risk of premature death. The condition affects approximately one in 15,000 births in the UK .

Zorevunersen: Targeting the Genetic Root

Zorevunersen, developed by Stoke Therapeutics in collaboration with Biogen, is designed to address the underlying cause of Dravet syndrome by acting on a faulty gene. Most people have two copies of the SCN1A gene, but in individuals with Dravet syndrome, one copy doesn’t produce enough of a protein needed for proper nerve cell signaling. The drug works by increasing production of this protein from the healthy copy of the SCN1A gene, aiming to restore more normal nerve cell function .

Clinical Trial Results

The study, published in The New England Journal of Medicine, found that children with Dravet syndrome experienced seizure reductions of up to 91 percent whereas regularly receiving zorevunersen . The trial involved 81 children with Dravet syndrome in the United Kingdom and the United States .

Prior to the study, participants experienced an average of 17 seizures each month. Children received doses of up to 70mg of zorevunersen through a lumbar puncture, with some receiving a single dose and others receiving additional doses over a six-month period . Among those who received the 70mg dose, seizure frequency dropped between 59 percent and 91 percent during the first 20 months of extension studies compared with pre-treatment levels .

Researchers also reported early evidence that the therapy may facilitate ease some of the disorder’s effects on thinking and behavior. Over a three-year period, children participating in the study showed improvements in quality of life, and most reported side effects were mild .

UK Hospitals Involved

Nineteen participants were treated at hospitals in the United Kingdom, including Great Ormond Street Hospital, Sheffield Children’s Hospital, Evelina London Children’s Hospital, and The Royal Hospital for Children in Glasgow .

Patient Impact

Freddie Truelove, an eight-year-old patient from Huddersfield who receives care through Sheffield Children’s NHS Foundation Trust, participated in the trial. His mother, Lauren, reported that the treatment has “completely changed our lives,” reducing his seizures from hundreds a day to just one or two brief seizures every three to five days .

Looking Ahead

A larger Phase Three trial is currently underway to further evaluate zorevunersen. Professor Helen Cross, Director and Professor of Childhood Epilepsy at the UCL Institute of Child Health and an Honorary Consultant in Paediatric Neurology at Great Ormond Street Hospital, stated that the treatment could help children with Dravet syndrome “lead much healthier and happier lives” .