Mar 06, 2026
3 min read
The first gene editing therapy for epilepsy shows promising results in one first trial with 81 patients
Gene patch stops debilitating Dravet syndrome, including epileptic seizures that can be triggered by looking at geometric patterns
First gene modulation therapy in epilepsy achieves promising results in first trial with 81 patients.
A revolutionary genetic patch has prevented seizures in children and teenagers with Dravet syndrome, a rare epileptic disorder in which seizures are triggered by infections, environmental heat or even visual stimuli, such as geometric patterns: lines, squares or diamonds.Spanish neurologist Antonio Gil-Nagel said one of his patients, a four-year-old boy with 20 seizures a month, was one of the first to try the experimental treatment, developed by Uruguayan biologist Isabel Aznarez and her colleagues at the US company Stock Therapeutics."The improvement was from the first injection," says Gil-Nagel of the International Hospital of Rubber in Madrid.If things look like this, it will be impressive.''
The child, who was treated in 2023, went from 20 attacks a month to only one crisis a year, the neurologist reminds.Patient Gill-Nagle was treated at London's Great Ormond Street Children's Hospital, which has been partly funded by copyrights to the character of Peter Pan since 1929, when the Scottish novelist James Matthew Barrie donated them to the institution.The promising results of the clinical trial, conducted in the United States and the United Kingdom, were published Wednesday in The New England Journal of Medicine."This is the first gene modulation therapy for epilepsy," says Gill-Nagel.
One in 16,000 newborns has Dravet syndrome.Most cases are caused by a mutation in the SCN1A gene, which changes how neurons behave and causes persistent epileptic seizures.Mortality is up to 15%.The experimental treatment, which is injected into the cerebrospinal fluid through a lumbar puncture, is called zorevursen and is a genetic patch that reduces the effects of the mutation.
81 children and adolescents between the ages of 2 and 18 participated in the clinical trial.The trial was designed to test the safety of the treatment, but scientists found an 85% reduction in epilepsy within three months in patients who received the highest dose.Benefits were recorded within 20 months of follow-up, with a reduction of 60% to 90%.In combating the onset of the disease, the experimental treatment has advantages in other areas of the disease, such as cognitive impairment and motor impairment.
Researchers at Lurie Children's Hospital in Chicago (USA), led by neurologist Linda Laux, shared the case of Owen, a 12-year-old patient with uncontrolled seizures, mental retardation and walking problems.Austin's mother said that after the experimental treatment, her son spoke more easily.
Adverse effects reported are mild or moderate.The most disturbing is the increase in the level of protein in the cerebrospinal fluid in almost half of the cases, but without detecting an increase in intracranial pressure or hydrocephalus.The company Stoke Therapeutics, with more than 200 million euros at the beginning of 2025, intends to support a new clinical trial, in which at least two private institutions in Spain will participate: Hospital Ruber Internacional and Clínica Universidad de Navarra.The American multinational Biogen has paid more than 140 million euros to obtain market rights for zorevunersen outside the United States, Mexico and Canada, although more tests are needed to prove that the treatment is effective and safe.
A paradigm shift
Pediatrician Rocio Sánchez-Carpintero will direct the trials at the Clinica Universidad de Navarra.The researcher emphasized that treatments so far only exist to alleviate symptoms."It's a paradigm shift. We've gone from treating a symptom, epilepsy, to treating the disease. It's like using antibiotics to kill the bacteria that causes pneumonia. No more coughing. Until now, we've only been treating cough. Fainting. It's a sign of Dravet syndrome." It's not the cause of Karp-International syndrome, Karp explains.This is a historic milestone.
"The quality of life of patients today is terrible. It's terrible. They have seizures that cannot be controlled with any medication, they have increasingly pronounced mental disabilities, they have difficulty walking in adolescence, there are some autism-like symptoms... Families are literally struggling to care for them," explained the pediatrician. "Since epilepsy has the potential to cause sudden death, many parents take shifts at night trying to wake their children in case of a crisis to prevent the child from dying."he said."It's a very difficult life."
This type of genetic aid is called antisense oligonucleotides.The first similar treatment approved in 2016 was nusinersen, which is used for spinal muscular atrophy.It costs $750,000 per patient in the first year and $375,000 in subsequent years. Results from subsequent clinical trialsThis is expected to happen in late 2028. It will tell us whether nusinersen can treat serious Dravet disease.“The outlook is very promising.I am very excited,” the pediatrician said.
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