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1. WO2020092171 - METHODS OF TREATMENT, GENETIC SCREENING, AND DISEASE MODELS FOR HEART CONDITIONS ASSOCIATED WITH RBM20 DEFICIENCY

Publication Number WO/2020/092171
Publication Date 07.05.2020
International Application No. PCT/US2019/058169
International Filing Date 25.10.2019
IPC
C12N 5/077 2010.01
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
5Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
07Animal cells or tissues
071Vertebrate cells or tissues, e.g. human cells or tissues
077Mesenchymal cells, e.g. bone cells, cartilage cells, marrow stromal cells, fat cells or muscle cells
A61P 9/04 2006.01
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
9Drugs for disorders of the cardiovascular system
04Inotropic agents, i.e. stimulants of cardiac contraction; Drugs for heart failure
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
  • THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIVERSITY [US]/[US]
  • EUROPEAN MOLECULAR BIOLOGY LABORATORY [DE]/[DE]
Inventors
  • BRIGANTI, Francesca
  • STEINMETZ, Lars M.
  • SUN, Han
  • WEI, Wu
Agents
  • BUCHBINDER, Jenny L.
Priority Data
62/753,03430.10.2018US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) METHODS OF TREATMENT, GENETIC SCREENING, AND DISEASE MODELS FOR HEART CONDITIONS ASSOCIATED WITH RBM20 DEFICIENCY
(FR) PROCÉDÉS DE TRAITEMENT, DE CRIBLAGE GÉNÉTIQUE ET DE MODÈLES DE MALADIE POUR DES AFFECTIONS CARDIAQUES ASSOCIÉES À UNE DÉFICIENCE DE RBM20
Abstract
(EN)
Methods of treatment, genetic screening, and disease models for heart conditions associated with RBM20 deficiency are disclosed. In particular, methods of treating heart conditions associated with RBM20 deficiency, including RBM20-dependent dilated cardiomyopathy and heart failure with compounds that upregulate expression of RBM20, such as all-trans retinoic acid are provided. Also disclosed are methods of genetic screening to detect the presence of a P633L mutation in RBM20 in order to identify individuals having a genetic predisposition to developing RBM20-dependent DCM. Induced pluripotent stem cell-derived cardiomyocytes (IPSC-CMs) produced by differentiation of IPSCs comprising at least one RBM20 allele encoding a P633L mutation and methods of using them in screening for therapeutics for treating RBM20-dependent DCM are also disclosed.
(FR)
Procédés de traitement, de criblage génétique et de modèles de maladie pour des affections cardiaques associées à une déficience de RBM20. En particulier, l'invention porte sur des procédés de traitement d'affections cardiaques associés à une déficience de RBM20, comprenant une cardiomyopathie dilatée (DCM) dépendante de RBM20 et une insuffisance cardiaque avec des composés qui régulent à la hausse l'expression de RBM20, tels que l'acide rétinoïque tout-trans. L'invention concerne en outre des procédés de criblage génétique pour détecter la présence d'une mutation P633L dans RBM20 afin d'identifier des individus présentant une prédisposition génétique au développement d'une DCM dépendante de RBM20. L'invention concerne par ailleurs des cardiomyocytes dérivés de cellules souches pluripotentes induites (IPSC-CMs) produits par différenciation d'IPSC comprenant au moins un allèle RBM20 codant pour une mutation P633L et des procédés d'utilisation correspondants dans le criblage d'agents thérapeutiques pour le traitement d'une DCM dépendante de RBM20.
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