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1. WO2020094748 - METABOLIC PROFILING FOR THE DIAGNOSIS OF A SUBSET OF IDIOPATHIC AUTISM SPECTRUM DISORDER PATIENTS, ASD PHENOTYPE 1

Publication Number WO/2020/094748
Publication Date 14.05.2020
International Application No. PCT/EP2019/080450
International Filing Date 06.11.2019
IPC
C12Q 1/68 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
Applicants
  • STALICLA SA [CH]/[CH]
Inventors
  • DURHAM, Lynn
  • HYVELIN, Jean-Marc
Agents
  • STOLMÁR & PARTNER INTELLECTUAL PROPERTY GMBH
Priority Data
18204769.606.11.2018EP
62/756,56306.11.2018US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) METABOLIC PROFILING FOR THE DIAGNOSIS OF A SUBSET OF IDIOPATHIC AUTISM SPECTRUM DISORDER PATIENTS, ASD PHENOTYPE 1
(FR) PROFILAGE MÉTABOLIQUE POUR LE DIAGNOSTIC D'UN SOUS-ENSEMBLE DE PATIENTS ATTEINTS D'UN TROUBLE DU SPECTRE AUTISTIQUE IDIOPATHIQUE, PHÉNOTYPE ASD 1
Abstract
(EN)
The invention relates to a method of diagnosing a subtype of autism spectrum disorder (ASD), so called ASD Phenotype 1, by assessing the energy production capacity of patient specific cell lines in presence of various carbon sources of energy and metabolic factors or by assessing the changes in energy production capacity or lack thereof after administration of an Nrf2-inhibitor.
(FR)
L'invention concerne un procédé de diagnostic d'un sous-type de trouble du spectre autistique (ASD), appelé phénotype ASD 1, par évaluation de la capacité de production d'énergie de lignées cellulaires spécifiques au patient en présence de diverses sources de carbone d'énergie et de facteurs métaboliques ou par évaluation des changements de capacité de production d'énergie ou de l'absence de ceux-ci après administration d'un inhibiteur de Nrf2.
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