Niemann Pick type C is a disease of lysosomal lipid accumulation: patients with this disease are unable to metabolise lipids (e.g. cholesterol) properly, and they tend to accumulate lipids in the liver, spleen and other organs. The prevalence in the general population is about 1/100,000.
The disease is characterized by autosomal recessive transmission and can occur either at birth, in childhood or during adulthood.
The main symptoms are enlargement of the liver and spleen (present in most patients), ataxia (loss of muscle coordination) and progressive mental deterioration. Dystonia (motor difficulties due to involuntary muscle contractions), dysarthria (difficulty making sounds), dysphagia (difficulty swallowing) and seizures may also be present. Life expectancy is generally reduced.
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