News

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation — allowing various development incentives — to Stoke Therapeutics’ STK-001 for the treatment of Dravet syndrome. The company now intends to test STK-001 in a Phase 1/2 clinical study in the first half of…

The Committee for Medicinal Products for Human Use (CHMP), an arm of the European Medicines Agency (EMA), is recommending approval of GW Pharmaceutical’s oral cannabidiol solution as an add-on to clobazam (Onfi and Sympazan) for treating seizures in children and adults, ages 2 and older, with Dravet syndrome or  Lennox-Gastaut syndrome. The…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Planning for a Phase 1 clinical trial to explore the safety and tolerability of escalating doses of EPX-100, a potential oral treatment for Dravet syndrome, is underway, Epygenix Therapeutics, the investigative therapy’s developer, announced. After completion of this first study in healthy individuals, the company plans to initiate…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

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…