Activating SCN1A to Treat Dravet Syndrome


Salvador Rico, MD, PhD, chief medical officer, Encoded Therapeutics, discussed the company’s gene therapy pipeline, including their lead program ETX101.

“We are creating precision gene therapies capable of targeting disease mechanisms by replacing a gene, silencing gene expression, or creating patterns of gene expression through gene regulation. Our platform has huge potential because pediatric neurological disorders represent a significant proportion of the Global Burden of Disease because they contribute to premature mortality and years lived with disability.”

Encoded Therapeutics is tackling Dravet syndrome (DS) with their lead program, ETX101, which is designed to upregulate patients’ SCN1A gene, and therefore sodium channels within GABAergic inhibitory neurons, to reduce seizures and extend survival.

The company has been conducting the ENVISION study (NCT04537832) to further understanding of the natural history and disease course of DS to better develop therapies to treat it. The first participant was enrolled in the study in April 2021 and the study, which plans to enroll around 50 children, will be completed in June 2024.

GeneTherapyLive spoke with Salvador Rico, MD, PhD, chief medical officer, Encoded Therapeutics, to learn more about ETX101 as a potential disease-modifying therapy for DS and the company’s focus on pediatric neurologic disorders. He also discussed Encoded’s pipeline of therapies for other disorders.

Hood V. Natural history study of children with Dravet Syndrome begins. March 19, 2021. Accessed August 10, 2021.

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