MX2022002198A - Composiciones y métodos para modular el empalme y la expresión de proteínas. - Google Patents

Composiciones y métodos para modular el empalme y la expresión de proteínas.

Info

Publication number
MX2022002198A
MX2022002198A MX2022002198A MX2022002198A MX2022002198A MX 2022002198 A MX2022002198 A MX 2022002198A MX 2022002198 A MX2022002198 A MX 2022002198A MX 2022002198 A MX2022002198 A MX 2022002198A MX 2022002198 A MX2022002198 A MX 2022002198A
Authority
MX
Mexico
Prior art keywords
protein expression
methods
compositions
alternative splicing
splicing events
Prior art date
Application number
MX2022002198A
Other languages
English (en)
Inventor
Isabel Aznarez
Original Assignee
Stoke Therapeutics Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Stoke Therapeutics Inc filed Critical Stoke Therapeutics Inc
Publication of MX2022002198A publication Critical patent/MX2022002198A/es

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C12N15/1138—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing against receptors or cell surface proteins
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/7125—Nucleic acids or oligonucleotides having modified internucleoside linkage, i.e. other than 3'-5' phosphodiesters
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/11—Antisense
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/314—Phosphoramidates
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/315—Phosphorothioates
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/321—2'-O-R Modification
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/322—2'-R Modification
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/323—Chemical structure of the sugar modified ring structure
    • C12N2310/3233—Morpholino-type ring
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/34—Spatial arrangement of the modifications
    • C12N2310/346—Spatial arrangement of the modifications having a combination of backbone and sugar modifications
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/35—Nature of the modification
    • C12N2310/352—Nature of the modification linked to the nucleic acid via a carbon atom
    • C12N2310/3525—MOE, methoxyethoxy
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/33—Alteration of splicing

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Biomedical Technology (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicinal Preparation (AREA)

Abstract

Los eventos de empalme alternativo pueden dar lugar a transcritos de ARNm no productivos que, a su vez, pueden conducir a la expresión aberrante de proteínas, y los agentes terapéuticos que pueden dirigirse a los eventos de empalme alternativo en los genes pueden modular el nivel de expresión de proteínas funcionales en pacientes enfermos y/o inhibir la expresión aberrante de proteínas. En el presente documento se describen agentes terapéuticos y métodos que pueden usarse para tratar una afección provocada por estos eventos de empalme alternativo.
MX2022002198A 2019-08-19 2020-08-19 Composiciones y métodos para modular el empalme y la expresión de proteínas. MX2022002198A (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962888887P 2019-08-19 2019-08-19
US202063049262P 2020-07-08 2020-07-08
PCT/US2020/047081 WO2021034985A1 (en) 2019-08-19 2020-08-19 Compositions and methods for modulating splicing and protein expression

Publications (1)

Publication Number Publication Date
MX2022002198A true MX2022002198A (es) 2022-05-24

Family

ID=74659533

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2022002198A MX2022002198A (es) 2019-08-19 2020-08-19 Composiciones y métodos para modular el empalme y la expresión de proteínas.

Country Status (11)

Country Link
US (1) US20220290142A1 (es)
EP (1) EP4017979A4 (es)
JP (1) JP2022544702A (es)
KR (1) KR20220104677A (es)
CN (1) CN114746550A (es)
AU (1) AU2020334067A1 (es)
BR (1) BR112022002905A2 (es)
CA (1) CA3147970A1 (es)
IL (1) IL290595A (es)
MX (1) MX2022002198A (es)
WO (1) WO2021034985A1 (es)

Families Citing this family (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3976789A4 (en) * 2019-05-27 2023-08-09 Vision Pharma Pty Ltd NEW TREATMENT FOR RETINITIS PIGMENTOSA
JP2023526060A (ja) * 2020-05-11 2023-06-20 ザ フローリー インスティテュート オブ ニューロサイエンス アンド メンタル ヘルス Ｓｙｎｇａｐ１中の機能喪失変異に関連する障害を処置するための組成物及び方法
WO2022271699A2 (en) * 2021-06-21 2022-12-29 Stoke Therapeutics, Inc. Antisense oligomers for treatment of non-sense mediated rna decay based conditions and diseases
EP4373845A2 (en) * 2021-07-23 2024-05-29 The Children's Medical Center Corporation Zinc finger ccch-type containing 14 (zc3h14) mutants and methods of use
US20230265436A1 (en) * 2022-02-24 2023-08-24 Q-State Biosciences, Inc. Therapeutics for syngap haploinsufficiency
WO2023196841A2 (en) * 2022-04-05 2023-10-12 The Johns Hopkins University Methods and materials for treating syngap1-associated neurodevelopmental disorders
WO2023212625A1 (en) * 2022-04-28 2023-11-02 AcuraStem Incorporated Syf2 antisense oligonucleotides
WO2023220727A1 (en) * 2022-05-13 2023-11-16 The Trustees Of The University Of Pennsylvania Compositions for treating syngap-1 related neurodevelopmental disorders
WO2024005715A1 (en) * 2022-06-28 2024-01-04 Agency For Science, Technology And Research Oligonucleotides

Family Cites Families (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2009064920A2 (en) * 2007-11-13 2009-05-22 Isis Pharmaceuticals, Inc. Compounds and methods for modulating protein expression
CA2735129C (en) * 2008-11-07 2012-06-26 Centre Hospitalier Universitaire Sainte-Justine Syngap1 dysfunctions and uses thereof in diagnostic and therapeutic applications for mental retardation
JP6867945B2 (ja) * 2014-10-03 2021-05-12 コールド スプリング ハーバー ラボラトリー 核内遺伝子出力の標的とされた増強
WO2017060731A1 (en) * 2015-10-09 2017-04-13 University Of Southampton Modulation of gene expression and screening for deregulated protein expression
WO2017106211A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of polycystic kidney disease
JP7049247B2 (ja) * 2015-12-14 2022-04-06 コールド スプリング ハーバー ラボラトリー 腎臓病の処置のための組成物と方法
EP3933041B1 (en) * 2015-12-14 2024-01-31 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant retardation
EP3390635A4 (en) * 2015-12-14 2019-05-01 Cold Spring Harbor Laboratory Antisense oligomers for the treatment of a tuberous sclerosis complex
JP2019500345A (ja) * 2015-12-14 2019-01-10 コールド スプリング ハーバー ラボラトリー 肝臓病の処置のための組成物および方法
CA3005128A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Compositions and methods for treatment of eye diseases
MX2019005588A (es) * 2016-11-28 2019-10-15 Ptc Therapeutics Inc Metodos para modular corte y empalme de arn.
PL3673080T3 (pl) * 2017-08-25 2024-03-11 Stoke Therapeutics, Inc. Oligomery antysensowne do leczenia stanów i chorób
KR20200070367A (ko) * 2017-10-23 2020-06-17 스톡 테라퓨틱스, 인크. 넌센스 매개 rna 분해 기반 병태 및 질환 치료를 위한 안티센스 올리고머

Also Published As

Publication number Publication date
CN114746550A (zh) 2022-07-12
EP4017979A4 (en) 2024-03-27
IL290595A (en) 2022-04-01
US20220290142A1 (en) 2022-09-15
WO2021034985A1 (en) 2021-02-25
BR112022002905A2 (pt) 2022-07-12
KR20220104677A (ko) 2022-07-26
CA3147970A1 (en) 2021-02-25
EP4017979A1 (en) 2022-06-29
AU2020334067A1 (en) 2022-03-17
JP2022544702A (ja) 2022-10-20

Similar Documents

Publication Publication Date Title
MX2022002198A (es) Composiciones y métodos para modular el empalme y la expresión de proteínas.
MX2020011786A (es) Oligomeros antisentido para tratamiento de afecciones y enfermedades.
MX2021012989A (es) Metodos y composiciones para modular el empalme y la traduccion.
CL2020002019A1 (es) Composiciones para modular la expresión de c9orf72. (divisional solicitud 201803582)
WO2018022668A3 (en) NEUROMODULATORY COMPOSITIONS AND ASSOCIATED METHODS OF TREATING CANCER
PH12020552060A1 (en) Active agents and methods of their use for the treatment of metabolic disorders and nonalcoholic fatty liver disease
MX2020003915A (es) Proteinas trispecificas y metodos de uso.
SG10201808063PA (en) Compositions for modulating ataxin 2 expression
EA201792214A1 (ru) Соединения замещенного хиназолина
MX2018010676A (es) Composiciones para modular la expresion de c9orf72.
EA201490994A1 (ru) Функционально-модифицированные олигонуклеотиды и их субъединицы
MX2022006858A (es) Oligomeros antisentido para el tratamiento de condiciones y enfermedades.
MX2018008903A (es) COMPOSICIONES Y METODOS DE USO DE ß-HIDROXI-ß-METILBUTIRATO (HMB) PARA MODULAR AUTOFAGIA Y LIPOFAGIA.
AU2018271862A1 (en) Combination therapy
WO2019157495A3 (en) Methods for preventing and/or treating bone loss conditions by modulating irisin
WO2018125800A3 (en) Metalloenzyme inhibitor compounds
MX2021007330A (es) Composiciones y métodos terapéuticos para tratar cáncer usando ácido 6, 8-bis-benciltio-octanoico y un inhibidor de autofagia.
CL2021002878A1 (es) Tratamiento y prevención de enfermedades metabólicas
MX2021006915A (es) Inhibidores de cxcr7 para el tratamiento de cancer.
MX2020003243A (es) Métodos para tratar la insuficiencia cardíaca con fracción de eyección preservada.
WO2018125799A3 (en) Metalloenzyme inhibitor compounds
MX2023009151A (es) Composiciones para el tratamiento de afecciones y enfermedades asociadas con la expresion de policistina.
WO2023086342A3 (en) Opa1 antisense oligomers for treatment of conditions and diseases
MX2020005557A (es) Agonistas de fxr para el tratamiento de enfermedades hepaticas.
MX2022005215A (es) Metodos de tratamiento que usan un modulador de la diana mecanicista del complejo 1 de rapamicina (mtorc1).