Dec 17, 2024

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 affects the system where waste products are recycled within the cell. In Niemann-Pick C disease, it's specific for lipids such as cholesterol or sphingolipids inside the cell that need to be recycled."  

"The early onset of the late infantile onset usually occurs before the age of 10. Then, you have the juvenile and adult-onset, which usually occurs after the age of 10 and have different types of symptoms. Once you have the neurological symptoms, they usually start with delay in motor milestones in the younger children. But most often, we see a diagnosis happening between the ages of, say, three and seven, starting with problems in walking, stability or gait problems, clumsiness, delay in speech, or losing the ability to speak appropriately, as well as seizures, problems at school, problems to follow direction at school, some behavioral problems."

#ZevraTherapeutics #RareDisease #OrphanDisease #NiemannPick #NPC #NiemannPickAwareness #PediatricRareDisease

zevra.com

Listen to the podcast here