News

To speed diagnoses and provide free genetic testing for young children in the United States and Canada who have unexplained seizures, BioMarin Pharmaceutical and Invitae have expanded their Behind the Seizure program. New partners in the effort include Biogen, Encoded Therapeutics, Neurogene, Praxis…

STK-001, Stoke Therapeutics’s investigational therapy for Dravet syndrome, prolongs survival and reduces the frequency of seizures in a mouse model of the disease, according to preclinical results. Findings from these studies were presented by the company in a poster, titled “Targeted Augmentation of Nuclear Gene Output…

Since Jan. 6, physicians in England are able to prescribe the oral cannabidiol solution Epidyolex, in combination with clobazam, to treat persistent seizures in eligible people with Dravet syndrome and Lennox Gastaut…

Infants who develop febrile seizures a short time after being vaccinated and are positive for a disease-causing mutation in the SCN1A gene should be considered for a diagnosis of Dravet syndrome, a new study shows. The study, “SCN1A variants in vaccine-related febrile seizures: a prospective study,” was published in…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

StrideBio and Sarepta Therapeutics announced a collaboration and license agreement to advance gene therapies for rare diseases of the central nervous and neuromuscular systems, including Dravet syndrome. Many genetic conditions are caused by mutations that impair the function of a particular gene — for instance, about three-quarters of Dravet…

Editor’s note: This story has been updated to add that Zogenix resubmitted a new drug application for Fintepla to the FDA in late September.  Treatment with Fintepla (ZX008) can provide a clinically meaningful and profound reduction in the frequency of seizures in Dravet syndrome patients, according to…

The National Institute of Health and Care Excellence (NICE), an arm of U.K.’s public health system, favors use of the oral cannabidiol solution Epidyolex as an add-on to clobazam to treat seizures associated with Dravet syndrome and Lennox Gastaut syndrome (LGS) in patients in England starting…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…