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1. WO2019104152 - POLYNUCLEOTIDES ENCODING ORNITHINE TRANSCARBAMYLASE FOR THE TREATMENT OF UREA CYCLE DISORDERS

Publication Number WO/2019/104152
Publication Date 31.05.2019
International Application No. PCT/US2018/062226
International Filing Date 21.11.2018
IPC
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9
Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10
Transferases (2.)
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15
Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09
Recombinant DNA-technology
63
Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
67
General methods for enhancing the expression
A HUMAN NECESSITIES
61
MEDICAL OR VETERINARY SCIENCE; HYGIENE
K
PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
48
Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
A HUMAN NECESSITIES
61
MEDICAL OR VETERINARY SCIENCE; HYGIENE
P
SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
3
Drugs for disorders of the metabolism
C12N 9/10 (2006.01)
C12N 15/67 (2006.01)
A61K 48/00 (2006.01)
A61P 3/00 (2006.01)
CPC
C12N 9/1018
C12Y 201/03003
Applicants
  • MODERNATX, INC. [US/US]; 200 Technology Square Cambridge, Massachusetts 02139, US
Inventors
  • ZHUO, Zhijian; US
  • FRASSETTO, Andrea Lea; US
  • MARTINI, Paolo G.V.; US
  • PRESNYAK, Vladimir; US
  • FINN, Patrick; US
Agents
  • BRENNAN, Jack; US
  • KOIPALLY, Joseph J.; US
Priority Data
62/590,15722.11.2017US
62/765,35420.08.2018US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) POLYNUCLEOTIDES ENCODING ORNITHINE TRANSCARBAMYLASE FOR THE TREATMENT OF UREA CYCLE DISORDERS
(FR) POLYNUCLÉOTIDES CODANT POUR L'ORNITHINE TRANSCARBAMYLASE POUR LE TRAITEMENT DE TROUBLES DU CYCLE DE L'URÉE
Abstract
(EN)
This disclosure relates mRNA therapy for the treatment of ornithine transcarbamylase deficiency (OTCD). mRNAs for use in the invention, when administered in vivo, encode human ornithine transcarbamylase (OTC), isoforms thereof, functional fragments thereof, and fusion proteins comprising OTC. mRNAs of the invention are preferably encapsulated in lipid nanoparticles (LNPs) to effect efficient delivery to cells and/or tissues in subjects, when administered thereto. mRNA therapies of the invention increase and/or restore deficient levels of OTC expression and/or activity in subjects. mRNA therapies of the invention further decrease levels of toxic ammonia associated with deficient OTC activity in subjects.
(FR)
La présente invention concerne une thérapie à base d'ARNm pour le traitement d'Une déficience en ornithine transcarbamylase (OTCD). Les ARNm destinés à être utilisés dans l'invention, lorsqu'ils sont administrés in vivo, codent pour l'ornithine transcarbamylase humaine (OTC), ses isoformes, ses fragments fonctionnels, et des protéines de fusion comprenant OTC. Les ARNm de l'invention sont de préférence encapsulés dans des nanoparticules lipidiques (NPL) pour permettre une administration efficace aux cellules et/ou aux tissus chez des sujets, lorsqu'ils sont administrés à ces derniers. Les thérapies par ARNm de l'invention augmentent et/ou restaurent des niveaux déficients d'expression et/ou d'activité OTC chez des sujets. Les thérapies par ARNm de l'invention diminuent en outre les niveaux d'ammoniaque toxique associés à une activité OTC déficiente chez des sujets.
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