News

A single dose of Stoke Therapeutics’ antisense oligonucleotide, targeting the SCN1A gene, largely eliminated the incidence of seizures as well as sudden unexplained death in epilepsy (SUDEP) cases of mice with Dravet syndrome, a study showed. The most recent preclinical data on Stoke’s targeted augmentation of nuclear gene…

Distinct mutations in the SCN1A gene are associated with different degrees of impairment in specific brain nerve cells as well as symptom severity in people with Dravet syndrome, according to a recent study. The research, “Differential effects on sodium current impairments by distinct SCN1A mutations in…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Zogenix‘s investigational compound Fintepla (fenfluramine HCl oral solution) improves behavioral and emotional control in children and young adults with Dravet syndrome, according to recent data presented at the 72nd American Epilepsy Society Annual Meeting in New Orleans. These findings were based on a post-hoc analysis performed on patients who participated…

Add-on oral treatment with Epidiolex (cannabidiol) significantly lowered the frequency of convulsive seizures in patients with Dravet syndrome, according to topline results of a Phase 3 clinical trial. The study (NCT02224703) was the second double-blind, placebo-controlled Phase 3 clinical trial of GW Pharmaceuticals’ Epidiolex in the treatment of…

Diacomit (stiripentol) add-on therapy is more effective in children with Dravet syndrome who have pathogenic (disease-causing) SCN1A mutations than in those with variants of unknown significance and benign SCN1A mutations, a study has found. The study, “Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations,” were…

Researchers have reported a case of a child with Dravet syndrome who began to have seizures triggered by wiping during diaper changes and whose seizures worsened after a mild head injury. The case, “Perineal stimulation triggering seizures in a child with Dravet syndrome,” was published as a…

Epidiolex (cannabidiol) oral solution is now available in the United States as a treatment for seizures in patients age 2 or older who have Lennox-Gastaut syndrome or Dravet syndrome. Epidiolex is developed by GW Pharmaceuticals and will be marketed in the U.S. by its subsidiary, Greenwich Biosciences. The anti-epileptic therapy…

Treatment with stiripentol reduces seizures and can resolve epileptic episodes, retrospective analysis of a small study in Turkish Dravet syndrome children suggests. The study, “Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome,” was published in the Journal of Child Neurology. Stiripentol, sold as Diacomit by…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…