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1. WO2020223197 - DIAGNOSIS AND TREATMENT OF AUTISM SPECTRUM DISORDERS ASSOCIATED WITH ALTERED METABOLIC PATHWAYS

Publication Number WO/2020/223197
Publication Date 05.11.2020
International Application No. PCT/US2020/030205
International Filing Date 28.04.2020
IPC
G01N 33/50 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
G01N 33/68 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
68involving proteins, peptides or amino acids
G01N 33/487 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
483Physical analysis of biological material
487of liquid biological material
G01N 33/53 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53Immunoassay; Biospecific binding assay; Materials therefor
G01N 30/72 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
30Investigating or analysing materials by separation into components using adsorption, absorption or similar phenomena or using ion-exchange, e.g. chromatography
02Column chromatography
62Detectors specially adapted therefor
72Mass spectrometers
Applicants
  • STEMINA BIOMARKER DISCOVERY, INC. [US]/[US]
Inventors
  • SMITH, Alan, Meyer
  • BRAAS, Daniel
  • LUDWIG, Michael
  • DONLEY, Elizabeth, L., R.
  • BURRIER, Robert
Agents
  • SCHOEN, Adam, M.
  • MAGGIN, Benjamin, D.
  • HYDE, Zachary, D.
  • MEYERS, Thomas, C.
  • LEONARDO, Mark, S.
Priority Data
62/842,05902.05.2019US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) DIAGNOSIS AND TREATMENT OF AUTISM SPECTRUM DISORDERS ASSOCIATED WITH ALTERED METABOLIC PATHWAYS
(FR) DIAGNOSTIC ET TRAITEMENT DES TROUBLES DU SPECTRE AUTISTIQUE ASSOCIÉS À DES VOIES MÉTABOLIQUES MODIFIÉES
Abstract
(EN)
The invention provides methods of diagnosing autism spectrum disorders (ASD) by identification of altered metabolic pathways in such subjects. By measuring concentrations of metabolites in a sample, such as a blood or plasma sample, from a subject, changes in the activity of specific metabolic pathways can be identified. In turn, ASD subjects can be classified based on metabolic defects. Thus, the methods allow healthcare professionals to provide patient- specific guidance on a course of treatment for individuals who have or are at risk of developing ASD.
(FR)
L'invention concerne des procédés de diagnostic de troubles du spectre autistique (TSA) par identification de voies métaboliques modifiées chez de tels sujets. En mesurant les concentrations de métabolites dans un échantillon, tel qu'un échantillon de sang ou de plasma, provenant d'un sujet, des changements de l'activité de voies métaboliques spécifiques peuvent être identifiés. À leur tour, des sujets TSA peuvent être classés sur la base de défauts métaboliques. Ainsi, les procédés permettent que les professionnels de santé fournissent un guidage spécifique au patient sur une série de traitements pour des personnes qui sont atteintes d'un TSA ou présentent un risque d'en développer un.
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