Empowered Patient Podcast

Dr. Adrian Quartel, Chief Medical Officer at Zevra Therapeutics, has received FDA approval for their drug MIPLYFFA in combination with miglustat, the first treatment in the US for Niemann-Pick type C, an ultra-orphan disease. This hard to diagnose, rare genetic lysosomal storage disorder affects the recycling of cholesterol and lipids in cells, leading to neurological and physical problems. The Amplify Assist program has been set up to help patients access and afford the treatment. Adrian elaborates, "Niemann-Pick C is a very rare or ultra-orphan disease. It's one of what is considered a lysosomal storage disorder. I'll try to explain a little bit about what that means. So lysosomes are little organelles or little systems within the cell that are basically the waste disposal system from the cell. They break down worn-out parts on the inside of the cells, or they break down harmful molecules and waste products. They're effectively recycling materials in the cell. So, any lysosomal storage disorder actually af