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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
Epygenix Therapeutics has submitted an investigational new drug application (IND) to the U.S. Food and Drug Administration (FDA) to assess the safety and efficacy of EPX-100, its investigational therapy for Dravet syndrome. If accepted, Epygenix expects to initiate a Phase 1 trial with healthy volunteers…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
The anti-seizure effect of cannabidiol in Dravet syndrome is dependent on the type of neurons upon which it acts, but not on the activity of sodium channels, a study finds. The findings of the study, “Investigating the Therapeutic Mechanism of Cannabidiol in a Human Induced Pluripotent Stem…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
Potassium bromide (KBr) can control certain types of epileptic seizures and should be considered as an option for the treatment of children with refractory epilepsy, a study says. The findings of the study, “Potassium Bromide in the Treatment of Pediatric Refractory Epilepsy,” were published in the…
Scientists have found a new genetic mutation in the SCN1A gene associated with Dravet syndrome, a case report says. The genetic variant was described in the study, “A novel variant in SCN1A gene associated with Dravet syndrome,” published in Seizure: European Journal of Epilepsy. Dravet syndrome…
Treatment with AZD7325, a compound that stimulates the activity of a specific type of receptors in the brain, has a seizure-protective effect in a mouse model of Dravet syndrome, a study has found. The study, “Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures…
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…
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