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Research News

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Stiripentol (DIACOMIT): History and New Expanded Approval

In July of this year, the US Food and Drug Administration (FDA) authorized the use of stiripentol (DIACOMIT) for patients with Dravet syndrome aged 6 months and older and taking clobazam (1). Previously, stiripentol was approved for patients aged 2 years and older in the US, which meant there could be a delay in access …

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Preclinical Development of a Gene Therapy for Dravet Syndrome

A recent publication from Tanenhaus et al details the preclinical work by Encoded Therapeutics that has led to the development of a potential gene regulation therapy for Dravet syndrome. The study, published in the journal Human Gene Therapy in June, shows proof-of-concept that their approach, ETX101, can be delivered to the correct cells in the …

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2021 research grant elaine wirrell

Dravet Syndrome International Consensus Project

Elaine C. Wirrell, MD – Mayo ClinicDSF Research Award – $75,000 (1 year project)Dravet Syndrome International Consensus Project (funding provide through unrestricted grants from Biocodex, Greenwich Biosciences, and Zogenix) A core group of pediatric and adult epilepsy specialists, with input from DSF, has identified important clinical issues relating to the diagnosis and management of patients with …

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Join the EL-PFDD Meeting

Particpate in the EL-PFDD on Dravet Syndrome Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting on Dravet Syndrome EL-PFDD meetings bring together patients and caregivers, US Food and Drug Administration (FDA) representatives, pharmaceutical companies, and doctors who are experts in the particular disease. DSF will be hosting a virtual EL-PFDD on Dravet syndrome on February 3, …

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AES Meeting Summary

AES 2021 Meeting Summary On December 3-7th, 2021, the American Epilepsy Society (AES) held its annual conference to bring together clinicians and scientists on the cutting edge of epilepsy research. This year had a multitude of presentations related to Dravet syndrome, making for an exciting few days focused on what we have learned about Dravet …

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Wenxi Yu

Optimizing the Regional Administration of SCN8a-targeting RNAi Therapy

Wenxi Yu, PhD – University of Michigan $50,000 ONE YEAR POSTDOCTORAL FELLOWSHIP Co-funded with JAM for Dravet Mutations in the sodium channel genes SCN1A and SCN8A are a significant cause of Developmental Epileptic Encephalopathies (DEEs), severe seizure disorders. We demonstrated that reduced expression of Scn8a using a specific ASO can prevent the onset of seizures …

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2021 research grant Sisodiya Balestrini

Use of TMS to understand in-vivo the functional pathophysiology of Dravet syndrome and predict treatment response

Simona Balestrini, MD, PhD – UCL Queen Square Institute of Neurology Sanjay Sisodiya, PhD, FRCP – UCL Queen Square Institute of Neurology  $150,000 TWO YEAR CLINICAL RESEARCH AWARD Dravet syndrome (DS) is caused by a genetic change that leads to severe epilepsy with difficult-to-treat seizures, cognitive impairment, other neurological and physical symptoms, and heightened risk …

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2021 research grant Thio Garbow

Ketogenic Diet Modulated Brain Energy Metabolism in Dravet Syndrome

Liu Lin Thio, MD, PhD – Washington University in St. Louis Joel R. Garbow, PhD – Washington University in St. Louis $150,000 TWO YEAR RESEARCH AWARD Co-funded with JAM for Dravet Children with Dravet syndrome have drug-resistant epilepsy characterized by different seizure types along with developmental regression and intellectual impairment. Dravet syndrome is genetic with …

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