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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…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

A gene therapy designed to increase the production of a subunit of the defective sodium channel in Dravet syndrome prolonged the survival, lowered seizures, and partially corrected abnormal behaviors in a mouse model of the disease. The work highlighted not only the potential of this type of genetic approach…