Charles H. Vite

TL;DR: Blood concentrations of two related oxysterols molecules were almost 10 times higher in Niemann-Pick C1 patients than in age-matched healthy controls or those with other diseases such as atherosclerosis or diabetes, suggesting that the two oxysterol molecules are accurate diagnostic markers of early clinical disease and can be used not only to monitor disease progression but also to demonstrate drug efficacy.

TL;DR: This open-label, dose-escalation phase 1-2a study gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health and evaluated Serum and CSF 24(S)-hydroxycholesterol (24[S]-HC), which serves as a biomarker of target engagement, andCSF protein biomarkers were evaluated.

TL;DR: It was found that lesion location was predictive of tumor type with diffuse cerebral or brainstem involvement predictive of lymphoma and third ventricle involved predictive of meningioma.

TL;DR: An online, open-access seizure forecasting competition using intracranial EEG recordings from canines with naturally occurring epilepsy and human patients undergoing presurgical monitoring wins, with the winning algorithms forecast seizures at rates significantly greater than chance.

TL;DR: These studies in a feline animal model have provided critical data on efficacy and safety of drug administration directly into the central nervous system that will be important for advancing HPβCD into clinical trials.