News

An RNA splicing technique that Stoke Therapeutics is developing led to the production of a protein that’s lacking in Dravet syndrome, a study in mice showed. Stoke discussed the approach at the Oligonucleotide & Peptide Therapeutics Conference in Boston, March 26-28. Dr. Charles R. Allerson, Stoke’s vice president of chemistry, delivered the…

Noninherited genetic mutations affecting the SCN1A gene may help explain almost 1% of Dravet syndrome cases of unknown cause, according to researchers from Japan. Genetic disorders are commonly inherited from parents who are carriers of the abnormal gene variant that cause the disease. If the disease is recessive, it means the…

Epidiolex, GW Pharmaceuticals’ investigational cannabis-based oral therapy, was proven safe in a Phase 2 clinical trial testing it in young children with Dravet syndrome. The therapy is a plant-derived cannabidiol being developed for patients with treatment-resistant forms of epilepsy including…

GW Pharmaceuticals announced that it recently received allowance notices from the U.S. Patent and Trademark Office (USPTO) for five new patent applications for Epidiolex (cannabidiol). Three of these applications specifically focus on methods to reduce the frequency of seizures in patients with a form of Dravet syndrome. Notices of allowance…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

Increased brain levels of a protein involved in inflammation were found to suppress seizures in mice, a finding that may have potential for the treatment of types of epilepsy, including Dravet syndrome. The study, “Maintenance of the Innate Seizure Threshold by Cyclooxygenase-2 is Not Influenced by the…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Caring for patients with Dravet syndrome places significant physical, emotional and time burdens on caregivers. Supportive services for Dravet families are necessary to improve not only the patients’ outcomes, but also to enhance caregivers’ quality of life, according to a recent survey. The study, “Assessing the impact of…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…