News

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Severe epilepsy in children with Dravet and Lennox-Gastaut syndrome can be safely treated with a medicinal cannabis oil that includes, at low dose, the intoxicating compound in marijuana known as THC, preliminary results of a Phase 1 clinical study suggest. “What makes these results really exciting is it opens up as…

Encoded Therapeutics will further develop its lead precision gene therapy platform for Dravet syndrome and other severe genetic disorders after a financing round brought in $104 million from several investors. The company’s goal is to receive approval and market this platform, which aims to overcome key limitations of…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

A genetic phenomenon called double somatic mosaicism was found for a first time in a girl with Dravet syndrome, a case study reports. The study, “Double somatic mosaicism in a child with Dravet syndrome,” was published in Neurology Genetics. Dravet syndrome, a severe type of epilepsy usually…

Zogenix has announced it will resubmit a New Drug Application (NDA) for Fintepla (ZX008), its investigational anti-seizure therapy for patients with Dravet syndrome, likely in the third quarter of this year. The U.S. Food and Drug Administration (FDA) refused the first NDA for Fintepla…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

  Epygenix Therapeutics has submitted an investigational new drug application (IND) to the U.S. Food and Drug Administration (FDA) to assess the safety and efficacy of EPX-100, its investigational therapy for Dravet syndrome. If accepted, Epygenix expects to initiate a Phase 1 trial with healthy volunteers…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

The anti-seizure effect of cannabidiol in Dravet syndrome is dependent on the type of neurons upon which it acts, but not on the activity of sodium channels, a study finds. The findings of the study, “Investigating the Therapeutic Mechanism of Cannabidiol in a Human Induced Pluripotent Stem…