Niemann-Pick disease Type C (NPC) is an autosomal recessive
lysosomal cholesterol storage disorder caused by mutations in
either of the NPC1 or NPC2 gene. To clarify its pathophysiological
mechanisms and to develop the effective cure, we have performed
translational and reverse translational researches using cellular
and animal models of the disease. We also have carried out
clinical pharmacological evaluation in patients with NPC focused
on the efficacy and safety of biocompatible artificial cholesterol
carrier, cyclodextrin derivatives.

We have also conducted clinical and epidemiological researches
on the promotion of proper use of medicines based on the
bioinformatics analysis, including such as renal function. Our
researches have been focused on the medical big data analyses,
including adverse event spontaneous report database,
questionnaire survey, and intervention/observation research. Our
current projects are being collaboratively performed with clinical
institutions, pharmaceutical companies and the government.