Niemann-Pick type C disease (NP-C) is a rare genetic neurological disorder caused by accumulation of lipids (fatty molecules such as cholesterol and gangliosides), due to a defect in the function of two proteins (called NPC-1 and NPC-2 proteins) which regulate the movement of lipids inside the cells of the body, especially the central nervous system.
Accumulation of these substances causes structural damage and functional impairment of these cells. This inherited fatal disease manifests progressively with severe, neurological very disabling signs and symptoms.
Information available on the natural history of the disease confirms that NP-C is an invariably progressive neurological disease. It mostly affects infants and children, but can also manifest in adults.
The symptoms of NP-C are highly variable and become most apparent in mid-to-late childhood. Diagnosing NP-C is not straightforward, and because of the highly heterogeneous nature of its manifestations this disease is often confused with other neurological diseases, or goes undetected altogether. Consequently, the true number of cases of NP-C may unfortunately be higher than currently thought. The diagnostic tests required to confirm NP-C, listed below, are complicated, and can only be carried out at a very limited number of highly specialized laboratories.
There is currently no cure for NP-C, and until recently, treatments focused only on managing symptoms. These therapies may be at least partially successful in treating some symptoms of NP-C, but have no impact on disease progression or long-term outcomes.