Abstract: The present invention is related to a method for diagnosing metachromatic leukodystrophy in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject, wherein the sample is selected from the group consisting of blood, dried blood, serum and plasma and wherein the biomarker is different from an enzyme.

Abstract: The present invention is related to a method for diagnosing Niemann-Pick disease in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject.

Abstract: The present invention is related to a compound of formula (I): a pharmaceutically acceptable salt thereof, a hydrate thereof, a solvate thereof, a metabolite thereof or a prodrug thereof; for use in a method for the treatment and/or prevention of cancer, wherein X is selected from the group consisting of N—R1, O and S; R1 is selected from the group consisting of alkyl, cycloalkyl, aryl, arylalkyl and hydrogen; R2 is selected from the group consisting of indolyl, substituted indolyl, azaindolyl and substituted azaindolyl; and R3 is selected from the group consisting of aryl, substituted aryl, unsubstituted heteroaryl, heterocyclyl and substituted heterocyclyl.

Abstract: The present invention is related to the in vitro use of lyso-Gb1 as a draggable target in the development of a drug, and to antagonist of lyso-Gb1 for use in the treatment and/or prevention of a disease, wherein the disease is Gaucher disease or Parkinson's disease.

Abstract: The present invention is related to a method for diagnosing Niemann-Pick disease in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject, wherein the biomarker is compound 509.

Abstract: The present invention is related to a method for diagnosing Farber's disease in a subject, wherein the method comprises detecting C26 ceramide in a sample from the subject.

Abstract: The present invention is related to a compound of formula (I) a pharmaceutically acceptable salt thereof, a hydrate thereof, a solvate thereof, a metabolite thereof or a prodrug thereof; for use in a method for the treatment and/or prevention of cancer, wherein X is selected from the group consisting of N—R1, O and S; R1 is selected from the group consisting of alkyl, cycloalkyl, aryl, arylalkyl and hydrogen; R2 is selected from the group consisting of indolyl, substituted indolyl, azaindolyl and substituted azaindolyl; and R3 is selected from the group consisting of aryl, substituted aryl, unsubstituted heteroaryl, heterocyclyl and substituted heterocyclyl.

Abstract: The present invention is related to a method for diagnosing Niemann-Pick disease in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject.

Abstract: The present invention is related to a compound of formula (I): a pharmaceutically acceptable salt thereof, a hydrate thereof, a solvate thereof, a metabolite thereof or a prodrug thereof; for use in a method for the treatment and/or prevention of leukemia, wherein X is selected from the group consisting of N—R1, O and S; R1 is selected from the group consisting of alkyl, cycloalkyl, aryl, arylalkyl and hydrogen; R2 is selected from the group consisting of indolyl, substituted indolyl, azaindolyl and substituted azaindolyl; and R3 is selected from the group consisting of aryl, substituted aryl, unsubstituted heteroaryl, heterocyclyl and substituted heterocyclyl.

Abstract: The present invention is related to a method for diagnosing Niemann-Pick disease in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject, wherein the biomarker is compound 509.

Abstract: The present invention is related to a compound of formula (I) a pharmaceutically acceptable salt thereof, a hydrate thereof, a solvate thereof, a metabolite thereof or a prodrug thereof; for use in a method for the treatment and/or prevention of cancer, wherein X is selected from the group consisting of N—R1, O and S; R1 is selected from the group consisting of alkyl, cycloalkyl, aryl, arylalkyl and hydrogen; R2 is selected from the group consisting of indolyl, substituted indolyl, azaindolyl and substituted azaindolyl; and R3 is selected from the group consisting of aryl, substituted aryl, unsubstituted heteroaryl, heterocyclyl and substituted heterocyclyl.

Abstract: The present invention is related to a method for diagnosing metachromatic leukodystrophy in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject, wherein the sample is selected from the group consisting of blood, dried blood, serum and plasma and wherein the biomarker is different from an enzyme.

Abstract: The present invention is related to a compound of formula (I): a pharmaceutically acceptable salt thereof, a hydrate thereof, a solvate thereof, a metabolite thereof or a prodrug thereof; for use in a method for the treatment and/or prevention of leukemia, wherein X is selected from the group consisting of N—R1, O and S; R1 is selected from the group consisting of alkyl, cycloalkyl, aryl, arylalkyl and hydrogen; R2 is selected from the group consisting of indolyl, substituted indolyl, azaindolyl and substituted azaindolyl; and R3 is selected from the group consisting of aryl, substituted aryl, unsubstituted heteroaryl, heterocyclyl and substituted heterocyclyl.