Niemann-Pick disease refers to a group of ultra-rare lysosomal storage conditions passed down in families. The conditions affect the body's ability to break down and use fats, such as cholesterol and lipids, inside cells. When these cells don't work as they should, a toxic buildup of fats occurs over time, causing the cells to die¹.

NPD is commonly undetected or misdiagnosed. This is often due to its highly variable clinical presentation characterised by a wide range of symptoms that, individually, are not specific to the disease. The journey to diagnosis can therefore be long and frustrating for patients and their families. The average delay in diagnosis of Niemann-Pick disease type C (NPC) is five to six years from the onset of neurological symptoms².

There is no cure for Niemann-Pick disease.