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

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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
C07K 14/005
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
005from viruses
C07K 14/47
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
435from animals; from humans
46from vertebrates
47from mammals
C07K 2319/00
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
2319Fusion polypeptide
C12N 2740/16022
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
2740Reverse Transcribing RNA Viruses
00011Reverse Transcribing RNA Viruses
10011Retroviridae
16011Human Immunodeficiency Virus, HIV
16022New viral proteins or individual genes, new structural or functional aspects of known viral proteins or genes
C12N 2740/16033
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
2740Reverse Transcribing RNA Viruses
00011Reverse Transcribing RNA Viruses
10011Retroviridae
16011Human Immunodeficiency Virus, HIV
16033Use of viral protein as therapeutic agent other than vaccine, e.g. apoptosis inducing or anti-inflammatory
C12N 2740/16071
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
2740Reverse Transcribing RNA Viruses
00011Reverse Transcribing RNA Viruses
10011Retroviridae
16011Human Immunodeficiency Virus, HIV
16071Demonstrated in vivo effect
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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