MX2020010959A - Moleculas de empalme trans. - Google Patents

Moleculas de empalme trans.

Info

Publication number
MX2020010959A
MX2020010959A MX2020010959A MX2020010959A MX2020010959A MX 2020010959 A MX2020010959 A MX 2020010959A MX 2020010959 A MX2020010959 A MX 2020010959A MX 2020010959 A MX2020010959 A MX 2020010959A MX 2020010959 A MX2020010959 A MX 2020010959A
Authority
MX
Mexico
Prior art keywords
mutations
abca4
cep290
trans
molecules
Prior art date
Application number
MX2020010959A
Other languages
English (en)
Inventor
Junwei Sun
Jean Bennett
Bruce C Schnepp
Philip R Johnson
Scott J Dooley
Krishna Jawaharlal Fisher
Original Assignee
Univ Pennsylvania
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 Univ Pennsylvania filed Critical Univ Pennsylvania
Publication of MX2020010959A publication Critical patent/MX2020010959A/es

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    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • 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
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • 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
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/70—Fusion polypeptide containing domain for protein-protein interaction
    • C07K2319/71—Fusion polypeptide containing domain for protein-protein interaction containing domain for transcriptional activaation, e.g. VP16
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/85—Fusion polypeptide containing an RNA binding domain
    • 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
    • C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPRs]
    • 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
    • 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
    • C12N2320/34—Allele or polymorphism specific uses
    • 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
    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Immunology (AREA)
  • Cell Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Epidemiology (AREA)
  • Ophthalmology & Optometry (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicinal Preparation (AREA)
  • Organic Low-Molecular-Weight Compounds And Preparation Thereof (AREA)

Abstract

La presente invención presenta moléculas de empalme trans de ácido nucleico (por ejemplo, moléculas de empalme trans pre-ARNm (RTM)) capaces de corregir una o más mutaciones en el gen ABCA4 o el gen CEP290. Esas moléculas son útiles en el tratamiento de trastornos asociados con mutaciones en ABCA4, como la enfermedad de Stargardt (por ejemplo, Enfermedad de Stargardt 1) y trastornos asociados con una mutación en CEP290, como la amaurosis congénita de Leber 10 (LCA 10). También se proporcionan por la invención descrita en la presente métodos de uso de las moléculas de empalme trans de ácido nucleico para corregir mutaciones en ABCA4 y CEP290 y para tratar trastornos asociados con mutaciones en ABCA4 y CEP290, como la Enfermedad de Stargardt y LCA 10.
MX2020010959A 2018-04-17 2019-04-17 Moleculas de empalme trans. MX2020010959A (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862658667P 2018-04-17 2018-04-17
US201862658658P 2018-04-17 2018-04-17
PCT/US2019/027981 WO2019204514A1 (en) 2018-04-17 2019-04-17 Trans-splicing molecules

Publications (1)

Publication Number Publication Date
MX2020010959A true MX2020010959A (es) 2021-01-15

Family

ID=68239871

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2020010959A MX2020010959A (es) 2018-04-17 2019-04-17 Moleculas de empalme trans.

Country Status (11)

Country Link
US (2) US11993776B2 (es)
EP (1) EP3781213A4 (es)
JP (2) JP7561624B2 (es)
KR (1) KR20210018222A (es)
CN (1) CN112449605A (es)
AU (1) AU2019255708A1 (es)
BR (1) BR112020021228A2 (es)
CA (1) CA3097004A1 (es)
IL (1) IL278019A (es)
MX (1) MX2020010959A (es)
WO (1) WO2019204514A1 (es)

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AU2022214429A1 (en) 2021-02-01 2023-09-14 Regenxbio Inc. Gene therapy for neuronal ceroid lipofuscinoses
WO2023220742A2 (en) * 2022-05-13 2023-11-16 Ascidian Therapeutics, Inc. Abca4 trans-splicing molecules
WO2024011203A2 (en) * 2022-07-07 2024-01-11 Intergalactic Therapeutics, Inc. Ocular vectors and uses thereof
WO2024068898A1 (en) * 2022-09-30 2024-04-04 Centre National De La Recherche Scientifique Therapy by trans-splicing of opa1 pre-messenger rnas for the treatment of diseases associated with opa1 gene mutations
WO2024173719A1 (en) * 2023-02-15 2024-08-22 Ascidian Therapeutics, Inc. Htt trans-splicing molecules

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CA2240494C (en) 1995-12-15 2007-03-13 Lloyd G. Mitchell Therapeutic molecules generated by trans-splicing
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AU735272B2 (en) 1996-10-04 2001-07-05 Intronn Llc Sample collection devices and methods using markers and the use of such markers as controls in sample validation, laboratory evaluation and/or accreditation
US6929907B2 (en) 1999-12-31 2005-08-16 North Carolina State University Methods and compositions for determining the purity of chemically synthesized nucleic acids
JP4500540B2 (ja) 2001-06-29 2010-07-14 ヴェリ‐キュー，インコーポレイテッド 化学的に合成された核酸の純度を決定し、かつ化学的に合成された核酸を精製するための方法および組成物
AU2003215249B2 (en) 2002-02-12 2008-07-03 Virxsys Corporation Methods and compositions for use in spliceosome mediated RNA trans-splicing
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AU2003247505A1 (en) 2002-06-05 2003-12-22 University Of Iowa Research Foundation Spliceosome mediated rna trans-splicing in stem cells
CA2488246A1 (en) 2002-06-05 2003-12-18 Intronn, Inc. Spliceosome mediated rna trans-splicing and correction of factor viii genetic defects using spliceosome mediated rna trans spling
US20040018622A1 (en) 2002-07-17 2004-01-29 Mitchell Lloyd G. Spliceosome mediated RNA trans-splicing for correction of skin disorders
DE60333032D1 (de) 2002-10-23 2010-07-29 Virxsys Corp Screening-verfahren zur identifizierung wirksamer prä-trans-spleissmoleküle
CA2553828A1 (en) 2004-01-23 2005-08-04 Intronn, Inc. Expression of apoa-1 and variants thereof using spliceosome mediated rna trans-splicing
WO2005070948A1 (en) 2004-01-23 2005-08-04 Intronn, Inc. Correction of alpha-1-antitrypsin genetic defects using spliceosome mediated rna trans splicing
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Also Published As

Publication number Publication date
CA3097004A1 (en) 2019-10-24
EP3781213A4 (en) 2022-10-19
IL278019A (en) 2020-11-30
AU2019255708A1 (en) 2020-11-26
WO2019204514A1 (en) 2019-10-24
US11993776B2 (en) 2024-05-28
JP2021520837A (ja) 2021-08-26
EP3781213A1 (en) 2021-02-24
US20240318186A1 (en) 2024-09-26
KR20210018222A (ko) 2021-02-17
JP2024099770A (ja) 2024-07-25
US20210155938A1 (en) 2021-05-27
BR112020021228A2 (pt) 2021-03-02
JP7561624B2 (ja) 2024-10-04
CN112449605A (zh) 2021-03-05

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