ECSP23012641A - Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a - Google Patents

Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a

Info

Publication number
ECSP23012641A
ECSP23012641A ECSENADI202312641A ECDI202312641A ECSP23012641A EC SP23012641 A ECSP23012641 A EC SP23012641A EC SENADI202312641 A ECSENADI202312641 A EC SENADI202312641A EC DI202312641 A ECDI202312641 A EC DI202312641A EC SP23012641 A ECSP23012641 A EC SP23012641A
Authority
EC
Ecuador
Prior art keywords
scn2a
methods
mrna
disorders associated
intron
Prior art date
Application number
ECSENADI202312641A
Other languages
English (en)
Inventor
Steven Petrou
Original Assignee
The Florey Inst Of Neuroscience And Mental Health
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
Priority claimed from AU2020902550A external-priority patent/AU2020902550A0/en
Application filed by The Florey Inst Of Neuroscience And Mental Health filed Critical The Florey Inst Of Neuroscience And Mental Health
Publication of ECSP23012641A publication Critical patent/ECSP23012641A/es

Links

Classifications

    • 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
    • A61P25/08—Antiepileptics; Anticonvulsants
    • 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
    • A61K31/712—Nucleic acids or oligonucleotides having modified sugars, i.e. other than ribose or 2'-deoxyribose
    • 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
    • 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
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/18—Antipsychotics, i.e. neuroleptics; Drugs for mania or schizophrenia
    • 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
    • A61K2121/00—Preparations for use in therapy
    • 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
    • C12N2310/32—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
    • C12N2310/3231—Chemical structure of the sugar modified ring structure having an additional ring, e.g. LNA, ENA
    • 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
    • C12N2310/3521—Methyl
    • 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
    • C12N2320/10—Applications; Uses in screening processes
    • C12N2320/11—Applications; Uses in screening processes for the determination of target sites, i.e. of active nucleic acids
    • 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)
  • Biomedical Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Epidemiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Psychiatry (AREA)
  • Pain & Pain Management (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

En el presente documento se proporcionan métodos para aumentar los niveles de la proteína SCN2A en una célula, que comprenden poner en contacto la célula con un oligonucleótido antisentido que potencia el corte y empalme en un sitio de corte y empalme de un intrón retenido en un ARNm o pre-ARNm de SCN2A de retención de intrones, en donde el intrón retenido se selecciona de entre el intrón 1, 2, 3, 4, 5, 11, 13, 17 y 24, y en donde el oligonucleótido antisentido comprende una secuencia de nucleobases que es complementaria a una región diana en el ARNm o pre-ARNm de SCN2A. También se proporcionan oligonucleótidos antisentido para su uso en dichos métodos. También se proporcionan métodos para tratar trastornos asociados a una mutación heterocigótica de pérdida de función en SCN2A, que comprenden administrar al sujeto dichos oligonucleótidos antisentido.
ECSENADI202312641A 2020-07-22 2023-02-22 Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a ECSP23012641A (es)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
AU2020902550A AU2020902550A0 (en) 2020-07-22 Compositions and methods for treating disorders associated with loss-of-function mutations in SCN2A

Publications (1)

Publication Number Publication Date
ECSP23012641A true ECSP23012641A (es) 2023-03-31

Family

ID=79729542

Family Applications (1)

Application Number Title Priority Date Filing Date
ECSENADI202312641A ECSP23012641A (es) 2020-07-22 2023-02-22 Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a

Country Status (15)

Country Link
US (1) US20230272387A1 (es)
EP (1) EP4185697A4 (es)
JP (1) JP2023534720A (es)
KR (1) KR20230095056A (es)
CN (1) CN116368227A (es)
AU (1) AU2021311137A1 (es)
BR (1) BR112023000988A2 (es)
CA (1) CA3186629A1 (es)
CL (1) CL2023000208A1 (es)
CO (1) CO2023001922A2 (es)
EC (1) ECSP23012641A (es)
IL (1) IL299999A (es)
MX (1) MX2023000907A (es)
PE (1) PE20230982A1 (es)
WO (1) WO2022016222A1 (es)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20250146073A1 (en) * 2022-02-04 2025-05-08 Praxis Precision Medicines, Inc. Methods for the treatment of scn2a-related disorders
KR20250180156A (ko) 2024-06-21 2025-12-31 중앙대학교 산학협력단 뇌전증의 예방 또는 치료용 조성물, 및 뇌전증 치료제 스크리닝 방법과 이의 조성물

Family Cites Families (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU1846501A (en) * 1999-11-26 2001-06-04 Bionomics Limited Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy
AU2001250572A1 (en) * 2000-04-07 2001-10-23 Epigenomics Ag Detection of single nucleotide polymorphisms (snp's) and cytosine-methylations
WO2002006294A2 (en) * 2000-07-13 2002-01-24 Genaissance Pharmaceuticals, Inc. Haplotypes of the mmp13 gene
WO2005035784A1 (en) * 2003-10-13 2005-04-21 Bionomics Limited A diagnostic method for neonatal or infantile epilepsy syndromes
CN101148665A (zh) * 2005-12-05 2008-03-26 广州医学院第二附属医院 钠离子通道scn1a基因突变及基因突变检测方法和用途
ES2618894T3 (es) * 2009-06-24 2017-06-22 Curna, Inc. Tratamiento de enfermedades relacionadas con el receptor del factor de necrosis tumoral 2 (tnfr2) por inhibición del transcrito natural antisentido para tnfr2
US9364495B2 (en) * 2009-10-20 2016-06-14 Roche Innovation Center Copenhagen A/S Oral delivery of therapeutically effective LNA oligonucleotides
WO2013173637A1 (en) * 2012-05-16 2013-11-21 Rana Therapeutics, Inc. Compositions and methods for modulating gene expression
GB201410693D0 (en) * 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
EP3481857B1 (en) * 2016-07-06 2026-02-11 Vertex Pharmaceuticals Incorporated Materials and methods for treatment of pain related disorders
KR20190030833A (ko) * 2017-09-15 2019-03-25 가톨릭대학교 산학협력단 신장암 환자의 예후 진단 및 치료 전략 결정용 연령 특이적 마커
LT3700570T (lt) * 2017-10-23 2025-04-10 Stoke Therapeutics, Inc. Priešprasmiai oligomerai, skirti būklių ir ligų, pagrįstų nonsens kodono nulemta mrnr degradacija, gydymui
WO2019143831A1 (en) * 2018-01-17 2019-07-25 Rogcon U.R., Inc. Compositions and methods for increasing expression of scn2a
CA3110211A1 (en) * 2018-08-20 2020-02-27 Rogcon, Inc. Antisense oligonucleotides targeting scn2a for the treatment of scn1a encephalopathies
US20220090087A1 (en) * 2019-01-23 2022-03-24 The Florey Institute Of Neuroscience And Mental Health Antisense oligonucleotides targeting scn2a retained introns

Also Published As

Publication number Publication date
BR112023000988A2 (pt) 2023-03-28
CL2023000208A1 (es) 2023-07-21
EP4185697A1 (en) 2023-05-31
IL299999A (en) 2023-03-01
WO2022016222A1 (en) 2022-01-27
JP2023534720A (ja) 2023-08-10
CA3186629A1 (en) 2022-01-27
KR20230095056A (ko) 2023-06-28
PE20230982A1 (es) 2023-06-21
MX2023000907A (es) 2023-04-27
US20230272387A1 (en) 2023-08-31
AU2021311137A1 (en) 2023-03-23
CO2023001922A2 (es) 2023-06-09
EP4185697A4 (en) 2025-01-01
CN116368227A (zh) 2023-06-30

Similar Documents

Publication Publication Date Title
PE20230739A1 (es) Composiciones y metodos para tratar trastornos asociados a mutaciones de perdida de funcion en syngap1
Christoph et al. Silencing of vanilloid receptor TRPV1 by RNAi reduces neuropathic and visceral pain in vivo
CO2023001922A2 (es) Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a
Tsai et al. Ciprofloxacin up‐regulates tendon cells to express matrix metalloproteinase‐2 with degradation of type I collagen
JP6845589B2 (ja) 腱治癒を調節するための物質および方法
Tjondrokoesoemo et al. Genetic overexpression of Serpina3n attenuates muscular dystrophy in mice
Akagi et al. Effective knock down of matrix metalloproteinase‐13 by an intra‐articular injection of small interfering RNA (siRNA) in a murine surgically‐induced osteoarthritis model
Lang et al. The antifibrotic effects of TGF-β1 siRNA on hepatic fibrosis in rats
Allen et al. Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy
ATE448207T1 (de) Mitotische kinesin-hemmer
JP2012193210A (ja) 眼の障害の治療のためのＲｈｏキナーゼのＲＮＡｉ媒介抑制
HK1226093A1 (en) Materials and methods for modulation of tendon healing
Bohnsack et al. Ethanol exposure regulates Gabra1 expression via histone deacetylation at the promoter in cultured cortical neurons
CL2025003288A1 (es) Anticuerpos que se unen a ox40l y métodos de uso.
Kawasaki et al. Selective blockade of transient receptor potential vanilloid 4 reduces cyclophosphamide-induced bladder pain in mice
Matsui et al. Increased level of tumor necrosis factor-alpha (TNF-α) leads to downregulation of nitrergic neurons following bilateral cavernous nerve injury and modulates penile smooth tone
Lasek et al. Lmo4 in the nucleus accumbens regulates cocaine sensitivity
CO2020010226A2 (es) Terapia con oligonucleotidos para la enfermedad de wilson
EP3720962A1 (en) Methods for reactivating genes on the inactive x chromosome
Ma et al. Missense mutation of c. 635 T> C in CAPN3 impairs muscle injury repair in a Limb‐Girdel Muscular Dystropy Model
WO2023076424A3 (en) Compositions and methods for disease treatment and prevention by ph modifiers and/or cell proliferation inhibitors
US20190381125A1 (en) Methods of Treating Angiogenesis-Related Disorders Using JNK3 Inhibitors
WO2024182813A3 (en) Targeting alu rna to treat inflamation and related inflammatory diseases and conditions
US20180066327A1 (en) Methods to Accelerate Wound Healing in Diabetic Subjects
CN106139163A (zh) 一种抑制骨关节炎的microRNA及其应用