[Therapies in the Niemann-Pick type C disease]

Niemann-Pick type C disease is a lysosomal storage disease affecting intracellular cholesterol trafficking. Several clinical forms have been described, with a possible onset at all ages of life from the neonatal period to adulthood. The therapeutic approach was symptomatic only until recently, depending on the disability presented by the patient. A global management is essential and often required, taking into account all the problems observed, and includes nutrition care, speech therapy, physiotherapy, psychological support, or psychiatric cares. Improved knowledge on the pathophysiology of Niemann-Pick type C disease has to consider specific therapeutic strategies, the therapeutic target is represented by the progressive brain damage characteristic of this disease. Recently, the use of miglustat allows a number of cases of disease stabilization. The onset of treatment and monitoring will be the best in a reference center expert in the disease.