News

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

The U.S. Food and Drug Administration (FDA) has expanded the age range for all Epidiolex (cannabidiol) indications to include patients ages 1 and older, according to its developer, GW Pharmaceuticals (GW). The therapy previously had been approved in the U.S. and in Europe for the treatment of seizures associated…

Encoded Therapeutics has raised $135 million to support the first human clinical trials for ETX101, its gene therapy for SCN1A-positive Dravet syndrome patients. The funding also will be used for a natural history study to better understand the progression of the disease in people carrying SCN1A mutations, which are…

Use of cannabidiol-based Epidiolex with two anti-epileptic treatments do not appear to raise major safety concerns, with a small rise in blood concentrations of Diacomit (stiripentol) and no changes of clinical importance with Depacon (sodium valproate) seen overall in…

The recent approval of Fintepla (fenfluramine) was a long time coming for its developer, Zogenix, and an event that CEO Stephen Farr, PhD, describes as a “very proud moment for us.” After a few bumps along the way, on June 25, the U.S. Food and…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

The United Kingdom Home Office has changed the classification of GW Pharmaceuticals‘ Epidyolex — a treatment for epileptic conditions including Dravet syndrome — from a Schedule 2 drug to a Schedule 5 drug. This move will make the medication easier to obtain. “The decision to move Epidyolex…

Stoke Therapeutics has begun enrollment for its Phase 1/2a MONARCH study, investigating the safety, tolerability, and effectiveness of STK-001 in children and adolescents with Dravet syndrome. The MONARCH trial (NCT04442295) will recruit up to 48 patients with Dravet, from ages 2–18, at multiple centers…

Note: This story was updated June 26, 2020, to note that the high dose of Fintepla used in the Phase 3 trials was 0.7 mg/kg/day rather than 0.8, as well as some differences in secondary outcome measures from what was reported on the trials’ webpages.  The U.S. Food and…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…