ES2903394T3 - Composiciones para el tratamiento de la retinitis pigmentosa 13 - Google Patents

Composiciones para el tratamiento de la retinitis pigmentosa 13

Info

Publication number
ES2903394T3
ES2903394T3 ES16876606T ES16876606T ES2903394T3 ES 2903394 T3 ES2903394 T3 ES 2903394T3 ES 16876606 T ES16876606 T ES 16876606T ES 16876606 T ES16876606 T ES 16876606T ES 2903394 T3 ES2903394 T3 ES 2903394T3
Authority
ES
Spain
Prior art keywords
mrna
protein
cases
prpf8
prpf3
Prior art date
Legal status (The legal status 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 status listed.)
Active
Application number
ES16876606T
Other languages
English (en)
Spanish (es)
Inventor
Isabel Aznarez
Huw M Nash
Adrian Krainer
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Cold Spring Harbor Laboratory
Stoke Therapeutics Inc
Original Assignee
Cold Spring Harbor Laboratory
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 Cold Spring Harbor Laboratory, Stoke Therapeutics Inc filed Critical Cold Spring Harbor Laboratory
Application granted granted Critical
Publication of ES2903394T3 publication Critical patent/ES2903394T3/es
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • 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
    • A61K31/713—Double-stranded nucleic acids or oligonucleotides
    • 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
    • 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
    • C12N2310/315—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
    • C12N2310/34—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
    • 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)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biotechnology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Medicinal Chemistry (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Ophthalmology & Optometry (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Biophysics (AREA)
  • Epidemiology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
ES16876606T 2015-12-14 2016-12-14 Composiciones para el tratamiento de la retinitis pigmentosa 13 Active ES2903394T3 (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201562267261P 2015-12-14 2015-12-14
PCT/US2016/066684 WO2017106364A2 (en) 2015-12-14 2016-12-14 Compositions and methods for treatment of retinitis pigmentosa 18 and retinitis pigmentosa 13

Publications (1)

Publication Number Publication Date
ES2903394T3 true ES2903394T3 (es) 2022-04-01

Family

ID=59057547

Family Applications (1)

Application Number Title Priority Date Filing Date
ES16876606T Active ES2903394T3 (es) 2015-12-14 2016-12-14 Composiciones para el tratamiento de la retinitis pigmentosa 13

Country Status (5)

Country Link
EP (1) EP3390642B1 (enExample)
JP (2) JP7054675B2 (enExample)
CA (1) CA3005254A1 (enExample)
ES (1) ES2903394T3 (enExample)
WO (1) WO2017106364A2 (enExample)

Families Citing this family (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
EP3201339A4 (en) 2014-10-03 2018-09-19 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
EP3359685A1 (en) 2015-10-09 2018-08-15 University Of Southampton Modulation of gene expression and screening for deregulated protein expression
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
KR102604132B1 (ko) 2015-12-14 2023-11-17 콜드스프링하버러보러토리 상염색체 우성 정신 지체 5 및 드라베 증후군의 치료를 위한 안티센스 올리고머
EP3426349A4 (en) 2016-03-09 2020-01-01 Ionis Pharmaceuticals, Inc. Methods and compositions for inhibiting pmp22 expression
KR102712656B1 (ko) 2017-01-23 2024-10-04 리제너론 파마슈티칼스 인코포레이티드 Hsd17b13 변종 및 이것의 용도
US11479802B2 (en) 2017-04-11 2022-10-25 Regeneron Pharmaceuticals, Inc. Assays for screening activity of modulators of members of the hydroxy steroid (17-beta) dehydrogenase (HSD17B) family
SI3673080T1 (sl) * 2017-08-25 2024-03-29 Stoke Therapeutics, Inc. Protismiselni oligomeri za zdravljenje bolezenskih stanj in bolezni
AU2018348195B2 (en) 2017-10-11 2025-05-15 Regeneron Pharmaceuticals, Inc. Inhibition of HSD17B13 in the treatment of liver disease in patients expressing the PNPLA3 I148M variation
CA3092817A1 (en) * 2018-03-02 2019-09-06 Academisch Ziekenhuis Leiden H.O.D.N. Lumc Inhibition of polyomavirus replication
BR112020018758A2 (pt) 2018-03-21 2021-01-26 Regeneron Pharmaceuticals, Inc. agente de ácido ribonucleico de fita dupla, célula, vetor, composição farmacêutica, e, métodos para inibição da expressão de 17¿-hidroxiesteroide desidrogenases tipo 13, para tratamento de um indivíduo, para prevenção de um sintoma em um indivíduo, para redução do risco de desenvolver doença hepática crônica, para inibição da progressão de esteatose, para inibição do acúmulo de gotículas de lipídios
BR112020022512A2 (pt) 2018-05-04 2021-05-04 Stoke Therapeutics, Inc. métodos e composições para tratamento de doença de armazenamento de éster de colesteril
JP7561129B2 (ja) * 2018-12-21 2024-10-03 アイオーニス ファーマシューティカルズ， インコーポレーテッド Ｐｍｐ２２の発現を低減するための化合物及び方法
AU2021270720A1 (en) 2020-05-11 2022-12-08 Stoke Therapeutics, Inc. OPA1 antisense oligomers for treatment of conditions and diseases

Family Cites Families (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4866042A (en) 1987-11-18 1989-09-12 Neuwelt Edward A Method for the delivery of genetic material across the blood brain barrier
US6294520B1 (en) 1989-03-27 2001-09-25 Albert T. Naito Material for passage through the blood-brain barrier
US5151510A (en) 1990-04-20 1992-09-29 Applied Biosystems, Inc. Method of synethesizing sulfurized oligonucleotide analogs
FI951404A7 (fi) 1992-09-25 1995-03-24 Rhone Poulenc Rorer Sa Adenovirusvektoreita vieraiden geenien siirtämiseksi keskushermostojärjestelmän , erityisesti aivojen, soluihin
US5656612A (en) 1994-05-31 1997-08-12 Isis Pharmaceuticals, Inc. Antisense oligonucleotide modulation of raf gene expression
FR2727867B1 (fr) 1994-12-13 1997-01-31 Rhone Poulenc Rorer Sa Transfert de genes dans les motoneurones medullaires au moyen de vecteurs adenoviraux
US6936589B2 (en) 2001-09-28 2005-08-30 Albert T. Naito Parenteral delivery systems
WO2007047913A2 (en) 2005-10-20 2007-04-26 Isis Pharmaceuticals, Inc Compositions and methods for modulation of lmna expression
EP3705125B1 (en) 2007-12-04 2023-07-05 Alnylam Pharmaceuticals, Inc. Carbohydrate conjugates as delivery agents for oligonucleotides
SI3449926T1 (sl) 2009-06-17 2020-04-30 Biogen Ma Inc. Sestave in metode za modulacijo združevanja SMN2 pri subjektu
EP3248982A1 (en) 2011-07-19 2017-11-29 Wave Life Sciences Ltd. Thiosulfonate reagents for the synthesis of functionalized nucleic acids
CN104004826B (zh) * 2013-01-07 2016-03-02 赵晨 突变的基因prpf4在制备遗传性视网膜疾病诊断试剂中的应用
CA2930859C (en) 2013-09-04 2022-05-03 Cold Spring Harbor Laboratory Reducing nonsense-mediated mrna decay

Also Published As

Publication number Publication date
JP2019500347A (ja) 2019-01-10
WO2017106364A3 (en) 2017-07-13
EP3390642A2 (en) 2018-10-24
CA3005254A1 (en) 2017-06-22
JP2022088621A (ja) 2022-06-14
EP3390642B1 (en) 2021-11-24
JP7054675B2 (ja) 2022-04-14
EP3390642A4 (en) 2019-06-26
WO2017106364A2 (en) 2017-06-22

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