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1. WO2020223576 - FRATAXIN-SENSITIVE MARKERS FOR DETERMINING EFFECTIVENESS OF FRATAXIN REPLACEMENT THERAPY

Publication Number WO/2020/223576
Publication Date 05.11.2020
International Application No. PCT/US2020/030884
International Filing Date 30.04.2020
IPC
C12Q 1/6809 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
6809Methods for determination or identification of nucleic acids involving differential detection
C12Q 1/6883 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
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
CPC
C12Q 1/6809
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6809Methods for determination or identification of nucleic acids involving differential detection
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12Q 2600/106
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
106Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
C12Q 2600/158
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
158Expression markers
Applicants
  • CHONDRIAL THERAPEUTICS, INC. [US]/[US]
Inventors
  • BETTOUN, Joan, David
Agents
  • MELLO, Jill, Ann
  • BAI, Mei
  • BLAZESKI, George
  • BAJAJ, Shama
  • BENNETT, Coalton
Priority Data
62/840,87830.04.2019US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) FRATAXIN-SENSITIVE MARKERS FOR DETERMINING EFFECTIVENESS OF FRATAXIN REPLACEMENT THERAPY
(FR) MARQUEURS SENSIBLES À LA FRATAXINE POUR DÉTERMINER L'EFFICACITÉ D'UNE THÉRAPIE DE REMPLACEMENT DE FRATAXINE
Abstract
(EN)
The present disclosure is based, at least in part, on providing a set of markers, also referred to herein as FXN-sensitive genomic markers (or FSGMs), the respective expression levels of which are positively or negatively correlated to frataxin (FXN) levels in a cell. Therefore, these FSGMs can be used to determine, evaluate, and/or monitor the effectiveness of FXN replacement therapy in a subject.
(FR)
La présente invention est basée, au moins en partie, sur la fourniture d'un ensemble de marqueurs, également désignés ici comme marqueurs génomiques sensibles à FXN (ou FSGM) dont les niveaux d'expression respectifs sont corrélés positivement ou négativement aux niveaux de frataxine (FXN) dans une cellule. Par conséquent, ces FSGM peuvent être utilisés pour déterminer, évaluer et/ou surveiller l'efficacité de la thérapie de remplacement de FXN chez un sujet.
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