Abstract: The present disclosure provides the use of two very long chain ceramides for determining the risk of cardiovascular disease.

Abstract: The present disclosure provides the use of two very long chain ceramides for determining the risk of cardiovascular disease.

Abstract: Among the various aspects of the present disclosure is the provision of a method of detecting ceramides as prognostic indicators. An aspect of the present disclosure provides for a prognostic indicator for risk of developing a cardiovascular-related disease, disorder, or condition and mortality risk.

Abstract: A method for identifying and screening subjects for cholesterol storage or trafficking diseases using an oxysterol as a biomarker. More particularly, subjects are screened and can be identified as having Niemann-Pick C disease, the method comprising the steps quantifying the concentration of an oxysterol in a biological sample taken from the subject and comparing the concentration of the oxysterol of the subject to a reference value of the oxysterol derived from a non-affected subject population. If the concentration of the oxysterol from the subject is higher than the reference value, the subject is identified as affected with Niemann-Pick C disease.

Abstract: A method for identifying and screening subjects for cholesterol storage or trafficking diseases using an oxysterol as a biomarker. More particularly, subjects are screened and can be identified as having Niemann-Pick C disease, the method comprising the steps quantifying the concentration of an oxysterol in a biological sample taken from the subject and comparing the concentration of the oxysterol of the subject to a reference value of the oxysterol derived from a non-affected subject population. If the concentration of the oxysterol from the subject is higher than the reference value, the subject is identified as affected with Niemann-Pick C disease.

Abstract: Disclosed are methods for determining efficacy of a cyclodextrin therapy in a subject afflicted with a disorder involving oxysterol accumulation. These methods comprise: obtaining a first body fluid sample from the subject prior to cyclodextrin administration; administering cyclodextrin; obtaining at least one second body fluid sample after the cyclodextrin administration; subjecting the body fluid samples to chromatography-mass spectroscopy analysis to determine concentration of 24-hydroxycholesterol and/or cholestane-3?,5?,6?-triol; and determining magnitude of difference between the 24-hydroxycholesterol and/or cholestane-3?,5?,6?-triol concentration of the body fluid samples, whereby an increase or stabilization of 24-hydroxycholesterol concentration, or a reduction of cholestane-3?,5?,6?-triol concentration in the at least one second sample compared to the first sample, indicates efficacy of the cyclodextrin therapy.

Abstract: Methods for screening or diagnosing subjects for disorders involving accumulation of one or more oxysterols such as cytotoxic oxysterol accumulation, Niemann-Pick C(NPC) disease, lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. Also provided are methods for methods for screening or diagnosing subjects (including infants and neonatal subjects) for NPC disease, methods for monitoring the progression, remission, and clinical status of NPC disease, and methods for evaluating the efficacy of therapeutic treatment of NPC disease.

Abstract: Methods for screening or diagnosing subjects for disorders involving accumulation of one or more oxysterols such as cytotoxic oxysterol accumulation, Niemann-Pick C(NPC) disease, lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. Also provided are methods for methods for screening or diagnosing subjects (including infants and neonatal subjects) for NPC disease, methods for monitoring the progression, remission, and clinical status of NPC disease, and methods for evaluating the efficacy of therapeutic treatment of NPC disease.

Abstract: In one aspect the present invention provides neuroactive steroids for use in the treatment of nervous system disorders, degenerative brain diseases and congenital storage diseases. In a second aspect the invention provides neuroactive steroids in combination with a Liver X Receptor (LXR) ligand to effect treatment of a nervous system condition.