EP3390635A4 - Antisense oligomers for the treatment of a tuberous sclerosis complex - Google Patents

Antisense oligomers for the treatment of a tuberous sclerosis complex Download PDF

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Publication number
EP3390635A4
EP3390635A4 EP16876615.2A EP16876615A EP3390635A4 EP 3390635 A4 EP3390635 A4 EP 3390635A4 EP 16876615 A EP16876615 A EP 16876615A EP 3390635 A4 EP3390635 A4 EP 3390635A4
Authority
EP
European Patent Office
Prior art keywords
bourneville
treatment
tuberous sclerosis
antisense oligomers
antisense
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.)
Withdrawn
Application number
EP16876615.2A
Other languages
German (de)
English (en)
French (fr)
Other versions
EP3390635A1 (en
Inventor
Isabel AZNAREZ
Huw M. Nash
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
Publication of EP3390635A1 publication Critical patent/EP3390635A1/en
Publication of EP3390635A4 publication Critical patent/EP3390635A4/en
Withdrawn legal-status Critical Current

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • 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
    • A61P13/00—Drugs for disorders of the urinary system
    • A61P13/12—Drugs for disorders of the urinary system of the kidneys
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic 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
    • C12N15/1135—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 oncogenes or tumor suppressor genes
    • 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
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/178—Oligonucleotides characterized by their use miRNA, siRNA or ncRNA

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Animal Behavior & Ethology (AREA)
  • Zoology (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biotechnology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Engineering & Computer Science (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Urology & Nephrology (AREA)
  • Oncology (AREA)
  • Neurosurgery (AREA)
  • Pathology (AREA)
  • Neurology (AREA)
  • Plant Pathology (AREA)
  • Immunology (AREA)
  • Epidemiology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
EP16876615.2A 2015-12-14 2016-12-14 Antisense oligomers for the treatment of a tuberous sclerosis complex Withdrawn EP3390635A4 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201562267212P 2015-12-14 2015-12-14
PCT/US2016/066705 WO2017106375A1 (en) 2015-12-14 2016-12-14 Antisense oligomers for treatment of tuberous sclerosis complex

Publications (2)

Publication Number Publication Date
EP3390635A1 EP3390635A1 (en) 2018-10-24
EP3390635A4 true EP3390635A4 (en) 2019-05-01

Family

ID=59057534

Family Applications (1)

Application Number Title Priority Date Filing Date
EP16876615.2A Withdrawn EP3390635A4 (en) 2015-12-14 2016-12-14 Antisense oligomers for the treatment of a tuberous sclerosis complex

Country Status (4)

Country Link
EP (1) EP3390635A4 (enExample)
JP (2) JP7051683B2 (enExample)
CA (1) CA3005131A1 (enExample)
WO (1) WO2017106375A1 (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
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
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
CN114746550A (zh) * 2019-08-19 2022-07-12 斯托克制药公司 用于调节剪接和蛋白质表达的组合物和方法
AU2021270720A1 (en) 2020-05-11 2022-12-08 Stoke Therapeutics, Inc. OPA1 antisense oligomers for treatment of conditions and diseases
EP4560019A1 (en) * 2023-11-22 2025-05-28 Sylentis S.A.U. Sirna and compositions for prophylactic and therapeutic treatment of ocular retinal conditions
EP4560020A1 (en) * 2023-11-22 2025-05-28 Sylentis S.A.U. Sirna and compositions for prophylactic and therapeutic treatment of ocular retinal conditions

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2008043561A2 (en) * 2006-10-11 2008-04-17 MAX-PLANCK-Gesellschaft zur Förderung der Wissenschaften e.V. Influenza targets
US20120252877A1 (en) * 2009-08-14 2012-10-04 Theramind Research, Llc Methods and compositions for treatment of tuberous sclerosis complex
WO2015035091A1 (en) * 2013-09-04 2015-03-12 Cold Spring Harbor Laboratory Reducing nonsense-mediated mrna decay
WO2016054615A2 (en) * 2014-10-03 2016-04-07 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
WO2017106382A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Compositions and methods for treatment of central nervous system diseases

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2773049C (en) * 2009-09-08 2019-08-20 Laboratory Corporation Of America Holdings Compositions and methods for diagnosing autism spectrum disorders
GB201410693D0 (en) * 2014-06-16 2014-07-30 Univ Southampton Splicing modulation

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2008043561A2 (en) * 2006-10-11 2008-04-17 MAX-PLANCK-Gesellschaft zur Förderung der Wissenschaften e.V. Influenza targets
US20120252877A1 (en) * 2009-08-14 2012-10-04 Theramind Research, Llc Methods and compositions for treatment of tuberous sclerosis complex
WO2015035091A1 (en) * 2013-09-04 2015-03-12 Cold Spring Harbor Laboratory Reducing nonsense-mediated mrna decay
WO2016054615A2 (en) * 2014-10-03 2016-04-07 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
WO2017106382A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Compositions and methods for treatment of central nervous system diseases

Non-Patent Citations (9)

* Cited by examiner, † Cited by third party
Title
ANONYMOUS: "Hit details for GSN:ASQ71657", 27 April 2020 (2020-04-27), XP055689536, Retrieved from the Internet <URL:http://ibis.internal.epo.org/exam/hitDetails.jsp?id=246015429> [retrieved on 20200427] *
DATABASE EMBL [online] 13 February 2015 (2015-02-13), "Sequence 87385 from patent US 8673560.", XP055572821, retrieved from EBI accession no. EM_PAT:HJ890926 Database accession no. HJ890926 *
DATABASE EMBL [online] 23 January 2014 (2014-01-23), "Sequence 84527 from Patent WO2013081755.", XP055572811, retrieved from EBI accession no. EM_PAT:JB952642 Database accession no. JB952642 *
DATABASE Geneseq [online] 13 November 2008 (2008-11-13), "Dual label detection probe, QF probe 1 5'_3'.", XP055572852, retrieved from EBI accession no. GSN:ARK21623 Database accession no. ARK21623 *
JANA KRALOVICOVA ET AL: "Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex", NUCLEIC ACIDS RESEARCH, vol. 42, no. 12, 8 July 2014 (2014-07-08), pages 8161 - 8173, XP055211568, ISSN: 0305-1048, DOI: 10.1093/nar/gku507 *
JANA KRÁLOVICOVÁ ET AL: "Phenotypic consequences of branch point substitutions", HUMAN MUTATION, vol. 27, no. 8, 1 January 2006 (2006-01-01), US, pages 803 - 813, XP055689646, ISSN: 1059-7794, DOI: 10.1002/humu.20362 *
KRISTINA JÜLICH ET AL: "Mechanism-Based Treatment in Tuberous Sclerosis Complex", PEDIATRIC NEUROLOGY., vol. 50, no. 4, 1 April 2014 (2014-04-01), NL, pages 290 - 296, XP055572991, ISSN: 0887-8994, DOI: 10.1016/j.pediatrneurol.2013.12.002 *
MAYER K ET AL: "Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences", BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE, AMSTERDAM, NL, vol. 1502, no. 3, 15 November 2000 (2000-11-15), pages 495 - 507, XP027370242, ISSN: 0925-4439, [retrieved on 20001115] *
See also references of WO2017106375A1 *

Also Published As

Publication number Publication date
WO2017106375A1 (en) 2017-06-22
JP2022088533A (ja) 2022-06-14
CA3005131A1 (en) 2017-06-22
JP2019500350A (ja) 2019-01-10
EP3390635A1 (en) 2018-10-24
JP7051683B2 (ja) 2022-04-11

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