EEC 2026 | Understanding Dravet syndrome biology to advance disease-modifying therapies
Nicola Specchio, MD, PhD, Bambino Gesù Children’s Hospital, Rome, Italy, comments on the current understanding of Dravet syndrome and the development of potentially disease-modifying treatments. These include antisense oligonucleotides and gene therapy with AAV9, which are being studied in experimental trials. This interview is part of our virtual coverage of the 16th European Epilepsy Congress (EEC), which took place in Athens, Greece.
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Transcript
The underlying biology of Dravet syndrome has been studied for 15-20 years so far, and we do know a number of things. We know that this condition is related to loss of function variants in the gene SCN1A, so the alpha-1 subunit of the sodium channel. What it is doing, at least for what we know now, but most likely there is more, but one of the most known effects on the brain is that there is an issue with GABAergic interneurons...
The underlying biology of Dravet syndrome has been studied for 15-20 years so far, and we do know a number of things. We know that this condition is related to loss of function variants in the gene SCN1A, so the alpha-1 subunit of the sodium channel. What it is doing, at least for what we know now, but most likely there is more, but one of the most known effects on the brain is that there is an issue with GABAergic interneurons. So there are dysfunctioning GABAergic interneurons. And this is one of the reasons related to the high epileptogenicity in those patients. There are some possibly disease-modifying treatments in the pipeline. Specifically, some of those, they are currently being studied in experimental studies. And we do have, for now, some kind of preliminary data. And how do they work? I mean, one of those, which is the most, there are actually at least two treatments in the pipeline. One is actually an antisense oligonucleotide, which is acting on the mRNA and acting on the healthy allele, trying to increment the production of the protein. And the other one is truly gene therapy with AAV9. So those compounds are actually on an experimental basis. So we look forward to receiving more and more data about how they may affect the disease in terms of modifying the trajectory, which means reducing the number of epileptic seizures and also improving all the known seizure symptoms that are related with Dravet syndrome.
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Disclosures
NS has served on scientific advisory boards for GW Pharma, BioMarin, Arvelle, Marinus and Takeda; has received speaker honoraria from Eisai, Biomarin, Livanova, Sanofi; has served as an investigator for Zogenix, Marinus, Biomarin, UCB, Roche; the remaining authors have no conflicts of interest.
