Hello. I am very sad because my step-cousin has this rare disease called Niemann-Pick disease. She is dying quickly. She is only 8 years old. She is less and more less energetic...she is having a hard time moving also. She has had this metabolism disorder all her life, but now it has progressed enough to kill her. I think she has Hepatitis and Encephalitis from it. The fat cells from foods don't actually run through the digestive system because they can't digest so they store on the liver and brain (for her). She is too young to take the trials for Niemann-Pick disease...she is helpless and I am devastated to loose her. Any help would be great!
Zavesca (Miglustat) is the only disease modifying therapy reducing
the progression of neurological symptoms in patients with Niemann-pick disease type C (NPC). Zavesca is approved to treat NPC in 40 countries including the UK, Canada, Australia, New Zealand, South Korea, Russia, Turkey, Colombia, Mexico.
In the United States, Zavesca is only currently approved to treat type 1 Gaucher's disease so a prescription for NPC would be classed as "off label". "Off label" prescriptions are legal and very common; more than 1 in 5 outpatient prescriptions written in the US are "off-label".
"Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids. Miglustat, a small iminosugar, reversibly inhibits glucosylceramide synthase, which catalyses the first committed step of glycosphingolipid synthesis. Miglustat is able to cross the blood-brain barrier, and is thus a potential therapy for neurological diseases."
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