Use of cannabidiol-based Epidiolex with two anti-epileptic treatments do not appear to raise major safety concerns, with a small rise in blood concentrations of Diacomit (stiripentol) and no changes of clinical importance with Depacon (sodium valproate) seen overall in…
The recent approval of Fintepla (fenfluramine) was a long time coming for its developer, Zogenix, and an event that CEO Stephen Farr, PhD, describes as a “very proud moment for us.” After a few bumps along the way, on June 25, the U.S. Food and…
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
The United Kingdom Home Office has changed the classification of GW Pharmaceuticals‘ Epidyolex — a treatment for epileptic conditions including Dravet syndrome — from a Schedule 2 drug to a Schedule 5 drug. This move will make the medication easier to obtain. “The decision to move Epidyolex…
Stoke Therapeutics has begun enrollment for its Phase 1/2a MONARCH study, investigating the safety, tolerability, and effectiveness of STK-001 in children and adolescents with Dravet syndrome. The MONARCH trial (NCT04442295) will recruit up to 48 patients with Dravet, from ages 2–18, at multiple centers…
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.
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