Medicine and Health Sciences Commons^™

Polyrotaxane Variants And Their Effects On The Cholesterol Efflux In Patients Suffering From Niemann Pick Type C, Sydney Smith, Zach Struzik, David Thompson

The Summer Undergraduate Research Fellowship (SURF) Symposium

Niemann Pick type C disease (NPC) is a rare lysosomal storage disorder characterized by a progressive accumulation of cholesterol in the late endosomal/lysosomes compartment leading to cellular dysfunction and organ failure. Symptoms include ataxia, dysarthria, cognitive dysfunction, and seizures. Although average life expectancy is below 20, there are no FDA approved treatment available making it a serious unmet medical need. Clinical trials with 2-hydroxypropyl-beta-cyclodextrin (HP-beta-CD) has shown promise in cholesterol normalization within NPC cells. However, HP-beta-CD treatment has been shown to cause ototoxicity in NPC patients at high dosages. Supramolecular complexes known as polyrotaxanes have been synthesized in hopes of …