US 2026/0072045 A1 · METHOD FOR DETECTING LYSOSOMAL STORAGE DISEASE BIOMARKERS AND KITS FOR PERFORMING THE METHOD

Abstract

The present invention provides methods for detecting multiple biomarkers indicative for lysosomal storage diseases from a dried blood spot. In particular, the present invention provides a method that is suited for detecting multiple biomarkers, each indicative for the presence of a distinct lysosomal storage disease in a subject, based on a single sample preparation procedure. In particular, the method allows simultaneous extraction of different biomarkers such as Lyso-Gb1 (GlcSph). Lyso-Gb3, and others from a dried blood spot sample. The invention further provides a kit of parts comprising means for conducting the methods subject of the invention. Finally, the invention provides a set of reference ranges for Lyso-Gb1 (GlcSph) and Lyso-Gb3 in healthy subjects starting from dried blot spot samples.

Claims15

Dependent claims

An in vitro method for detecting multiple biomarkers indicative for lysosomal storage diseases, wherein the method comprises:

i) an extraction step of a dried blood spot sample or a portion thereof in an extraction solution comprising 35% to 65% dimethyl sulfoxide (DMSO) and 35% to 65% methanol (v/v);
ii) a centrifugation step comprising centrifugation of the sample obtained in step i) and collecting the supernatant (v/v);
iii) a detection step comprising detection of at least two biomarkers in the supernatant of step ii) each indicative for a distinct lysosomal storage disease.

Dependencies are inferred from the claim text.

Facts

Application

18/869,452Filed 1 Jun 2023

Priority

EP 22176830.21 Jun 2022

Published

12 Mar 2026

Term ends

Not estimatedThe source records don’t support an estimate.

Classification5 codes

G01N 33/92
Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing:…
G01N 2405/10
Sphingolipids: glycosphingolipids, e.g. cerebrosides, gangliosides
G01N 2458/15
Labels used in chemical analysis of biological material: non-radioactive isotope labels, e.g. for detection by mass spectrometry
G01N 2800/04
Detection or diagnosis of diseases: endocrine or metabolic disorders

Method for detecting lysosomal storage disease biomarkers and kits for performing the method

Life of this patent

Method for detecting lysosomal storage disease biomarkers and kits for performing the method

Life of this patent

Abstract

Claims15