Bile acid biomarkers for niemann-pick diseases, methods and uses therefor

A method for determining the status of a Niemann-Pick disease in a subject with a Niemann-Pick disease comprising:

• (a) obtaining at least one body fluid sample from the subject;
• (b) determining a quantification value of at least one bile acid selected from the group consisting of 3β,5α,6β-trihydroxycholanic acid, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)glycine and N-(3β,5α,6β-trihydroxy-cholan-24-oyl)taurine by subjecting the at least one body fluid sample to a liquid chromatography-mass spectroscopy analysis;
• and
• (c) determining the magnitude of the difference between the quantification value and a reference value of the at least one bile acid obtained from the subject at an earlier time, wherein if the quantification value is statistically significantly greater than or equal to the reference value, then the subject is not deemed to exhibit remission of the Niemann-Pick disease.

A method of detecting a Niemann-Pick disease in a subject comprising:

• (a) providing a sample from a subject;
• (b) subjecting the sample to a mass spectroscopy analysis to determine the concentration in the sample of at least one bile acid;
• (c) comparing the amount of the at least one bile acid present in the sample to a reference value of the at least one bile acid obtained from a control population consisting of individuals not afflicted with a Niemann-Pick disease;
• and
• (d) diagnosing the subject as afflicted with a Niemann-Pick disease if the amount of the at least one bile acid from the subject is statistically significantly greater than that of the reference value.

A method for determining the status of a Niemann-Pick disease in a subject with a Niemann-Pick disease comprising:

• (a) obtaining at least one body fluid sample from the subject;
• (b) determining a quantification value of at least one bile acid selected from the group consisting of 3β,5α,6β-trihydroxycholanic acid, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)glycine and N-(3β,5α,6β-trihydroxy-cholan-24-oyl)taurine by subjecting the at least one body fluid sample to a mass spectroscopy analysis;
• and
• (c) determining the magnitude of the difference between the quantification value and a reference value of the at least one bile acid obtained from the subject at an earlier time, wherein if the quantification value is statistically significantly greater than or equal to the reference value, then the subject is not deemed to exhibit remission of the Niemann-Pick disease.