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Niemann-Pick disease type C

Niemann-Pick C disease (NPC) is a lysosomal storage disorder which affects the brain and multiple other organs.

It is a rare disease, with around 1 in 120,000 babies going on to develop NPC.  However, this may be an underestimate, as medical professionals are still learning more about how to recognise the disease and new diagnostic tools are becoming available.

Patients can develop NPC as either children or adults and can have many different symptoms.  These can include learning difficulties, movement, speech and swallowing problems. Sadly, NPC is life-limiting, and many patients diagnosed as children die before the age of 20.

Most NPC patients inherit two faulty copies of the NPC1 gene from their parents who carry one mutation without suffering from any illness as a result. For these patients, this leads to the loss of function in a transmembrane protein also called NPC1. This protein is in the outer membrane of the lysosome and helps regulate the movement of lipids through this compartment. As a result, various classes of lipids, such as cholesterol and sphingolipids, accumulate in lysosomes and disrupt cellular function. This is particularly detrimental to an area of the brain which is important for the coordination of movement but also impacts other areas of the brain, the liver, and the lungs.

Currently, there is no approved therapy indicated for NPC in the US and the only therapies available to NPC patients in other countries may at best help slow the progression of the disease. There is more to be done for patients and their families. Utilising our proprietary technology to correct a fundamental defect in cells present throughout the body we are moving quickly to develop a new treatment to improve the lives of patients with NPC.