News

Diacomit (stiripentol) is safe and effective at reducing the frequency of different types of seizures in people with Dravet syndrome when used routinely, including up to about two years, according to interim data from an ongoing study of its real-life use in Japan. Findings from the study, “…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

After its approval in Europe in December, Fintepla (fenuramine) now is  commercially available in Germany as an add-on treatment for seizures associated with Dravet syndrome in patients 2 and older, the therapy’s developer, Zogenix, recently announced. “With the launch of FINTEPLA in Germany, physicians and caregivers here…

International Epilepsy Day (IED), falling on Feb. 8 this year, calls attention to the needs of the roughly 50 million people globally who are affected by the brain disorder. “This is a day for everyone, no matter where you are, no matter how small your group or large your area,…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

By implementing a free-of-charge epilepsy genetic testing program, it is possible to lower the average age of molecular diagnosis of children with epileptic disorders caused by mutations in the SCN1A gene, such as Dravet syndrome, from more than 6 to less than 2 years of age. The study with…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

The use of TANGO antisense oligonucleotide-based technology, developed by Stoke Therapeutics, resulted in a dose-dependent increase in brain levels of the NaV1.1 protein that is deficient in Dravet syndrome, a mouse study has shown.  This technology can potentially treat the…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Fintepla has no substantial impact on growth, in terms of height and weight, in children with Dravet syndrome, clinical trial data suggest. The findings were shared at the 2020 American Epilepsy Society (AES) Annual Meeting, in the presentation, “Treatment with Fintepla (fenluramine) in Patients with…