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)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Zoology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Epidemiology (AREA)
  • Biophysics (AREA)
  • General Chemical & Material Sciences (AREA)
  • Ophthalmology & Optometry (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (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 (https=)
JP (2) JP7054675B2 (https=)
CA (1) CA3005254A1 (https=)
ES (1) ES2903394T3 (https=)
WO (1) WO2017106364A2 (https=)

Families Citing this family (16)

* 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
AU2015327836B2 (en) 2014-10-03 2021-07-01 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
CN108603230A (zh) 2015-10-09 2018-09-28 南安普敦大学 基因表达的调节与蛋白质表达失调的筛选
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
WO2017106377A1 (en) 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
WO2017156242A1 (en) 2016-03-09 2017-09-14 Ionis Pharmaceuticals, Inc. Methods and compositions for inhibiting pmp22 expression
RU2019126483A (ru) 2017-01-23 2021-02-24 Ридженерон Фармасьютикалз, Инк. Варианты 17-бета-гидроксистероиддегидрогеназы 13 (hsd17b13) и их применение
KR20190139869A (ko) 2017-04-11 2019-12-18 리제너론 파마슈티칼스 인코포레이티드 하이드록시스테로이드 (17-베타) 탈수소효소(hsd17b) 패밀리의 구성원의 조절인자의 활성도를 스크리닝하기 위한 검정
KR102318434B1 (ko) 2017-08-25 2021-11-01 스톡 테라퓨틱스, 인크. 병태 및 질환 치료용 안티센스 올리고머
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
WO2019168402A1 (en) * 2018-03-02 2019-09-06 Academisch Ziekenhuis Leiden H.O.D.N. Lumc Inhibition of polyomavirus replication
AU2019239971B2 (en) 2018-03-21 2025-09-11 Regeneron Pharmaceuticals, Inc. 17beta-hydroxysteroid dehydrogenase type 13 (HSD17b13) iRNA compositions and methods of use thereof
CA3099280A1 (en) 2018-05-04 2019-11-07 Stoke Therapeutics, Inc. Methods and compositions for treatment of cholesteryl ester storage disease
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
AU2020227825B2 (en) 2019-02-27 2026-03-26 Stoke Therapeutics, Inc. Antisense oligomers for treatment of conditions and diseases
CN115867657A (zh) 2020-05-11 2023-03-28 斯托克制药公司 用于治疗疾患和疾病的opa1反义寡聚物

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
ATE404683T1 (de) 1992-09-25 2008-08-15 Aventis Pharma Sa Adenovirus vektoren für die übertragung fremder gene in zellen des zentralen nervensystems, insbesondere im gehirn
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
WO2009073809A2 (en) 2007-12-04 2009-06-11 Alnylam Pharmaceuticals, Inc. Carbohydrate conjugates as delivery agents for oligonucleotides
ES2699827T3 (es) 2009-06-17 2019-02-13 Biogen Ma Inc Composiciones y métodos para la modulación de corte y empalme de SMN2 en un sujeto
CN103796657B (zh) 2011-07-19 2017-07-11 波涛生命科学有限公司 合成官能化核酸的方法
CN103667438B (zh) * 2013-01-07 2015-04-01 赵晨 一种筛查HRDs致病突变的方法及涉及的基因芯片杂交探针设计方法
EP3041958B1 (en) 2013-09-04 2019-12-04 Cold Spring Harbor Laboratory Reducing nonsense-mediated mrna decay

Also Published As

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

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