News

Heart abnormalities are unlikely to be the reason behind the high rate of Sudden Unexpected Death in Epilepsy (SUDEP) in people with Dravet syndrome, a new study suggests, though further research is needed. The study, “Cardiac arrhythmias in Dravet syndrome: an observational multicenter study,” was…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

A newly developed artificial intelligence (AI) system could help expedite the diagnosis of epileptic conditions such as Dravet syndrome. The AI system was described in a study, titled “A propositional AI system for supporting epilepsy diagnosis based on the 2017 epilepsy classification: Illustrated by Dravet syndrome,”…

In addition to promoting the release of serotonin, a brain chemical typically associated with feelings of well-being and happiness, Fintepla (fenfluramine) also seems to control the activity of sigma-1 receptors found on the surface of nerve cells, a study has found. This dual mechanism of action is…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

In a move that will give Dravet syndrome patients easier treatment access, the U.S. Drug Enforcement Administration (DEA) has reclassified Epidiolex (formerly GWP42003-P) as a non-controlled substance. In what the agency called a “descheduling,” the action removes all federally controlled-substance restrictions for the oral cannabidiol (CBD) solution that…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

Epidiolex (cannabidiol), as an add on-therapy administered at either a low or high dose, leads to similar clinically relevant reductions in the frequency of convulsive seizures in children with treatment-resistant Dravet syndrome, Importantly, a lower Epidiolex dose shows a better safety and tolerability profile when compared to the higher dose.

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…