JP-2022513735-A5 -

Dates

Publication Date

20221215

Application Date

20191210

Description

All publications, patents, and patent documents are incorporated herein by reference as if they were individually incorporated by reference. This disclosure is described with reference to various specific and preferred embodiments and techniques. However, it should be understood that many modifications and alterations are possible, while remaining within the spirit and scope of the invention. The present invention provides, for example, the following items: (Item 1) A method for detecting one or more biomarkers in a subject with lysosomal storage disorder (LSD), wherein the method is: 1) Measuring the concentration of two or more lipid combinations in a sample from the subject, wherein the lipid combination is: a) Bis(monoacylglycero)phosphate (BMP), b) GM2 ganglioside and/or GM3 ganglioside, c) GD3 ganglioside, d) GD1a/b ganglioside, and e) Glucosylceramide (GlcCer) The measurement to be performed is selected from the group consisting of the following: 2) Measuring the concentration of GlcCer in a sample from the subject, provided that LSD is a mucopolysaccharidosis (MPS) disorder, 3) Measuring the concentration of neurofilament light chains (Nf-L) in a sample from the subject, and/or 4) Measuring the concentration of soluble induced receptor 2 (sTREM2) expressed on bone marrow cells in a sample from the subject. The method, including the method described above. (Item 2) A method for evaluating the effectiveness of treatment in a subject with LSD, wherein the method is: 1) Measuring the concentration of two or more lipid combinations in a sample obtained from the subject after applying the above treatment, wherein the lipid combinations are: a) BMP, b) GM2 ganglioside and/or GM3 ganglioside, c) GD3, d) GD1a/b, and e) GlcCer The measurement to be performed is selected from the group consisting of the following: 2) Measuring the concentration of GlcCer in the sample obtained from the subject after the application of the above treatment, provided that the LSD is an MPS disorder, and that the above measurement is performed. 3) Measuring the concentration of Nf-L in the sample obtained from the subject after the application of the above treatment, and/or 4) Measuring the concentration of sTREM2 in the sample obtained from the subject after applying the above treatment. Includes, The method wherein the decrease in the concentration of selected lipids/proteins in the sample obtained from the subject after the application of the treatment, compared to the concentration of lipids/proteins in the sample obtained from the subject before the application of the treatment, correlates with the effectiveness of the treatment. (Item 3) The method of item 1 or 2, further comprising applying an LSD treatment to the subject. (Item 4) The method according to any one of items 1 to 3, further comprising adjusting the treatment regimen for the subject. (Item 5) A method for treating LSD in a subject, wherein the method is 1) Applying LSD treatment to the above-mentioned subject, 2) a) A combination of two or more lipids in a sample from the subject, wherein the combination of lipids is i) BMP, ii) GM2 ganglioside and/or GM3 ganglioside, iii) GD3, iv) GD1a/b, and v) GlcCer The combination selected from the group consisting of, b) GlcCer in a sample from the subject, wherein the LSD is an MPS defect, the GlcCer, c) Nf-L in the sample from the subject, and/or d) sTREM2 in the sample from the subject Measuring the concentration of, 3) Adjusting the dosage of the LSD treatment based on the concentration of selected lipids (multiple)/proteins (multiple) in the sample from the subject compared to a control value. The method, including the method described above. (Item 6) A method according to any one of items 1 to 5, comprising measuring the concentration of the combination of two or more lipids. (Item 7) A method according to any one of items 1 to 5, comprising measuring the concentration of the sTREM2. (Item 8) A method according to any one of items 1 to 5, comprising measuring the concentration of Nf-L. (Item 9) A method according to any one of items 1 to 5, comprising measuring the concentration of the GlcCer, wherein the LSD is an MPS disorder. (Item 10) A method according to any one of items 1 to 5, comprising measuring the concentration of one or more lipids and the concentration of sTREM2. (Item 11) A method according to any one of items 1 to 5, comprising measuring the concentration of one or more lipids and the concentration of Nf-L. (Item 12) The aforementioned combination is a method according to any one of items 1 to 6, including BMP. (Item 13) The aforementioned combination is a method according to any one of items 1 to 6, including GlcCer. (Item 14) The aforementioned combination is a method according to any one of items 1 to 6, including GD3. (Item 15) The aforementioned combination is a method according to any one of items 1 to 6, including GD1a/b. (Item 16) The aforementioned combination is the method of any one of ite