EEC 2026 | What defines a disease-modifying therapy in Dravet syndrome and other DEEs?
Nicola Specchio, MD, PhD, Bambino Gesù Children’s Hospital, Rome, Italy, discusses the concept of disease modification when developing treatments for Dravet syndrome and other developmental and epileptic encephalopathies (DEEs). Prof. Specchio highlights the need for a clear definition and the importance of considering not only seizure reduction but also the underlying symptoms and disease trajectory. 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
When we talk about disease-modifying therapies, we are talking about drugs or compounds that are possibly able to change the disease trajectory, looking at it and comparing it with the natural history data. But let me give a background a little bit on this. Currently, we don’t have a final and overall accepted definition of disease modification. This is under discussion and within the International League Against Epilepsy...
When we talk about disease-modifying therapies, we are talking about drugs or compounds that are possibly able to change the disease trajectory, looking at it and comparing it with the natural history data. But let me give a background a little bit on this. Currently, we don’t have a final and overall accepted definition of disease modification. This is under discussion and within the International League Against Epilepsy. For sure, when we think about a possible disease-modifying treatment, we definitely need to think that this needs to look at the results, not only on epileptic seizures, but also on the symptoms that are behind epileptic seizures. So we do expect from a disease-modifying treatment, what? Firstly, a reduction of epileptic seizures. Second, a modification of the trajectory in terms of development of patients affected by different developmental and epileptic encephalopathies or other epilepsies, even not DEEs. The problem is that the trajectory should be compared with data coming from natural history studies. And therefore, to have proof that we are actually modifying the trajectory, we need to have strong data coming from the natural history studies. So overall, this is the pathway where we should move for the future, definitely trying to develop more and more disease-modifying treatments for those patients, as far as it’s not sufficient just reducing the number of seizures to overall cure those patients. This is the last sentence I would like to mention, that for some of those diseases, we do have now possible disease-modifying treatments under evaluation. And hopefully, for the future, we will have more, as far as several antisense oligonucleotide treatments are coming in experimental trials, and therefore we will understand more in the future.
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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.
