Shifting the Treatment Paradigm for Dravet Syndrome: Joseph Sullivan, MD

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“For Dravet syndrome specifically, it’s a very engaged and connected community that is striving for better treatments. In the last 6 years, we have had zero FDA-approved drugs to treat Dravet syndrome, which now There are three.”

At the 2023 International Epilepsy Congress (IEC), held September 2-6 in Dublin, Ireland, Stoke Therapeutics presented a number of data on its investigational antisense oligonucleotide (ASO) STK-001, a treatment in development for Dravet syndrome (DS). Is. STK-001, which has been granted orphan drug and rare pediatric disease designation by the FDA, aims to become the first disease-modifying therapy for DS. Agent designed to upregulate NaV1.1 protein expression by taking advantage of a non-mutant transcript SCN1A gene to restore physiological NaV1.1 levels, thereby reducing both the incidence of seizures and significant non-seizure comorbidities.

More than 85% of DS patients have the mutation SCN1A, a gene that contains instructions for making sodium ion channel proteins in the brain. Other SCN1A Mutations are associated with less severe forms of epilepsy, such as genetic epilepsy with febrile seizures. About 10-15% of patients with DS go undiagnosed. SCN1A Mutations, and in some cases, mutations may occur in genes other than those in the individual SCN1A He copies DS. Advances in the understanding of the underlying pathophysiological structure of DS and improved genetic testing have now opened the door for ASOs to play a role in the treatment paradigm, says Joseph Sullivan, MD.

Sullivan, director of the Pediatric Epilepsy Center at UCSF, says there are still complications to be explored from these genetic-based approaches; However, he believes they offer real therapeutic potential for people with refractory forms of epilepsy. In a recent interview with Neurology Live®, Sullivan discussed the importance of STK-001 and the changes in the DS treatment paradigm over the past few years. Additionally, he provided views on emerging concepts in the field, including improvements in genetic testing and the potential for precision medicine.

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