Effectively Treating Rare Epileptic Disorder Dravet Syndrome with Nayla Chaijale UCB

Nayla Chaijale, Medical Strategy Lead for Rare Syndromes at UCB, describes Dravet syndrome, a rare, medication-resistant epileptic encephalopathy that involves seizures and significant co-morbidities like cognitive and developmental delays. Their approved drug FINTEPLA has a unique mechanism of action that modulates pathways in the brain and has demonstrated a significant reduction in the frequency of convulsive seizures in those with this condition. Nayla notes that the good news is that most patients with Dravet syndrome have a mutation in the SCN1A gene, a critical biomarker that enables accurate diagnosis. Nayla explains, "So, Dravet syndrome is a rare condition in epilepsy, and what we call it is neurodevelopmental and epileptic encephalopathy. I'm just going to call it DEEs, to say that it's a rare epileptic syndrome. Even though it's very rare, it's also very burdensome for the patients and their families. So, people living with these conditions start having the symptoms at a very early age, between two and 15 months of life. And it usually appears after a fever or a high temperature. And the symptoms are seizures that usually are long, prolonged seizures. It's not just about the seizures, it's also the other symptoms, such as potential cognitive delays and other developmental delays, problems with sleep, problems with behavior over time."   "The good news about Dravet syndrome is that there is a very well-established biomarker. So, there is a genetic test for it, for the gene code that is called SCN1A. And also, in science, we love to have acronyms, but really, it's related to a specific type of receptors or proteins that are in charge of neuronal transmission and communication, like in the neurons. And these are called sodium channel neurotransmitters. And there is a mutation of that gene that is very characteristic, around 90% of these patients will have that mutation of the gene. So, having that biomarker will give a very good indication to the healthcare provider that the person living with the conditions may have Dravet syndrome." #UCB #DravetSyndrome #RareEpilepsy #FINTEPLA #Neuroscience #RareDiseases #EpilepsyAwareness #MedicalInnovation #PatientCare #NeurodevelopmentalDisorders #ClinicalTrials #RareDiseases ucb.com Download the transcript here