Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.
News
Biocodex has chosen Pantherx Rare specialty pharmacy to be the sole U.S. distributor of Diacomit (stiripentol), an add-on and oral anti-seizure medicine that is approved for people with Dravet syndrome, ages 2 and older. The pharmacy, licensed in all 50 states, will add Diacomit to its portfolio…
The prevalence of Dravet syndrome in the U.K. is low, with most patients diagnosed before age 18, a large-scale healthcare database analysis showed. The findings also showed that the use of anti-seizure medications and healthcare resources was high among those with Dravet. This study provided valuable information on the…
The prevalence of Dravet syndrome in Sweden was one in 45,000 at the end of 2018, with most identified patients having a disease-causing mutation in the SCN1A gene, a study found. Data showed the rate of new diagnoses was higher, the age at diagnosis lower, and the use of contraindicated sodium…
An international panel of physicians and caregivers with expertise in Dravet syndrome is recommending genetic testing in children ages 2 to 15 months who develop normally but have a prolonged seizure after fever or vaccination. Among several consensus statements, the panel also recommended a number of currently available therapies…
Anticonvulsant therapies in the benzodiazepine class successfully suppressed nearly 62% of all episodes of status epilepticus in children with Dravet syndrome, a study reported, whereas second-line treatments were required in the remaining cases. As no identifiable clinical features could distinguish benzodiazepine (BZD) responders from non-responders, findings overall suggest that BZD…
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…
From remembering those lost to Dravet syndrome to sharing patient stories, supporters are gearing up to mark Dravet Syndrome Awareness Month, observed each June to call attention to this severe type of epilepsy and the 1 in 20,000 to 40,000 individuals globally it is thought to affect. International Dravet…
A Phase 3 clinical trial is recruiting Dravet syndrome patients between the ages of 2 and 21 to assess the effectiveness, safety, and tolerability of the investigational treatment soticlestat when taken with other anti-seizure therapies. Called the Skyline study, the trial (NCT04940624) will test soticlestat as an…
Adults with Dravet syndrome commonly experience walking difficulties that tend to worsen with age, a small study reports. “In this study, it was observed that gait parameters and parkinsonian symptoms were abnormal across all ages, but clearly worse in older patients, suggesting a progressive gait disorder,” researchers wrote. By…
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