"The child, treated in 2023, went from experiencing around 20 seizures a month to having only about one a year, according to the neurologist. Gil-Nagel's young patient received the therapy at Great Ormond Street Hospital for Children in London. The improvement was immediate, from the first injection."
"One in every 16,000 newborns has Dravet syndrome. In most cases, the condition is caused by a mutation in the SCN1A gene, which alters the behavior of neurons and leads to frequent epileptic seizures. The mortality rate reaches 15%. The experimental treatment is called zorevunersen and is a genetic patch that reduces the effects of the mutation."
"It is the first gene-regulatory treatment for epilepsy. The experimental treatment administered into the cerebrospinal fluid through a lumbar puncture is called zorevunersen and is a genetic patch that reduces the effects of the mutation. The clinical trial involved 81 children and adolescents between the ages of two and 18."
Zorevunersen, a genetic treatment developed by Stoke Therapeutics, represents the first gene-regulatory therapy for Dravet syndrome, a rare and severe form of epilepsy affecting one in 16,000 newborns. The condition, typically caused by SCN1A gene mutations, triggers frequent seizures and carries a 15% mortality rate. Administered via lumbar puncture into cerebrospinal fluid, the treatment acts as a genetic patch reducing mutation effects. Clinical trials involving 81 children and adolescents aged 2-18 demonstrated remarkable results, with one patient experiencing seizure reduction from 20 monthly episodes to approximately one annually. Results published in The New England Journal of Medicine show the therapy's potential to transform treatment for this previously intractable epilepsy form.
Read at english.elpais.com
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