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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…

Epilepsy surgery may be ineffective, and even detrimental, in people with Dravet syndrome caused by mutations in the SCN1A gene, a small multicenter study suggests. While patients with other SCN1A-associated epilepsies benefited from this type of surgery, Dravet patients did not, even in the presence of a…

Add-on treatment with Epidiolex — an oral form of cannabidiol (CBD) — effectively drops the frequency of seizures in people with Dravet syndrome and Lennox‑Gastaut syndrome (LGS), regardless of co-administration with the anti-seizure medication clobazam, according to a review study. The findings, which suggest that CDB…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Note: This story was updated June 15, 2020, to note that Ashish Sagrolikar is Zogenix’s chief commercial officer, not its CEO.  Pharmaceutical company Zogenix has launched “Shine Forward with Dravet,” an online resource to support the parents and siblings of children with Dravet syndrome. The new resource,…

In light of the COVID-19 pandemic, there are several ways to get involved virtually to support Dravet Syndrome Awareness Month, observed each June. Organized by the Dravet Syndrome Foundation (DSF), the monthlong event is intended to make this severe type of epilepsy — and the needs of…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Stoke Therapeutics plans to begin enrollment later this year of Dravet syndrome patients for part A of its Phase 1/2a MONARCH trial to evaluate the investigational therapeutic STK-001, according to a press release. Most people with Dravet syndrome have mutations in one of the two copies (one…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…