CA3091912A1 - Methods and compositions for treating angelman syndrome - Google Patents

Methods and compositions for treating angelman syndrome Download PDF

Info

Publication number
CA3091912A1
CA3091912A1 CA3091912A CA3091912A CA3091912A1 CA 3091912 A1 CA3091912 A1 CA 3091912A1 CA 3091912 A CA3091912 A CA 3091912A CA 3091912 A CA3091912 A CA 3091912A CA 3091912 A1 CA3091912 A1 CA 3091912A1
Authority
CA
Canada
Prior art keywords
chr7
grna
cas9
unsilencing
mmu9
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.)
Pending
Application number
CA3091912A
Other languages
English (en)
French (fr)
Inventor
Mark John Zylka
Justin Matthew WOLTER
Giulia FRAGOLA
Jeremy Mark SIMON
Hanqian MAO
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.)
University of North Carolina at Chapel Hill
Original Assignee
University of North Carolina at Chapel Hill
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 University of North Carolina at Chapel Hill filed Critical University of North Carolina at Chapel Hill
Publication of CA3091912A1 publication Critical patent/CA3091912A1/en
Pending legal-status Critical Current

Links

Classifications

    • 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
    • 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
    • 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
    • A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/465—Hydrolases (3) acting on ester bonds (3.1), e.g. lipases, ribonucleases
    • 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
    • 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
    • C12N7/00—Viruses; Bacteriophages; Compositions thereof; Preparation or purification thereof
    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C12N9/22—Ribonucleases [RNase]; Deoxyribonucleases [DNase]
    • 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 [CRISPR]
    • 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
    • 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
    • C12N2800/00—Nucleic acids vectors
    • C12N2800/80—Vectors containing sites for inducing double-stranded breaks, e.g. meganuclease restriction sites

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Biomedical Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Medicinal Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Immunology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Neurosurgery (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Neurology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Virology (AREA)
  • Gastroenterology & Hepatology (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)
  • Peptides Or Proteins (AREA)
CA3091912A 2018-02-27 2019-02-27 Methods and compositions for treating angelman syndrome Pending CA3091912A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862635815P 2018-02-27 2018-02-27
US62/635,815 2018-02-27
PCT/US2019/019789 WO2019168950A1 (en) 2018-02-27 2019-02-27 Methods and compositions for treating angelman syndrome

Publications (1)

Publication Number Publication Date
CA3091912A1 true CA3091912A1 (en) 2019-09-06

Family

ID=67805564

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3091912A Pending CA3091912A1 (en) 2018-02-27 2019-02-27 Methods and compositions for treating angelman syndrome

Country Status (6)

Country Link
US (1) US20210054370A1 (enExample)
EP (1) EP3758714A4 (enExample)
JP (1) JP2021513866A (enExample)
CN (1) CN111770758A (enExample)
CA (1) CA3091912A1 (enExample)
WO (1) WO2019168950A1 (enExample)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2019255789B2 (en) 2018-04-19 2025-11-20 The Regents Of The University Of California Compositions and methods for gene editing
SG11202113253SA (en) 2019-06-07 2021-12-30 Scribe Therapeutics Inc Engineered casx systems
WO2021126087A1 (en) 2019-12-18 2021-06-24 National University Of Singapore Method for treating angelman syndrome and related disorders
WO2021222232A1 (en) * 2020-04-28 2021-11-04 The Trustees Of The University Of Pennsylvania Compositions and uses thereof for treatment of angelman syndrome
AU2021392719B2 (en) 2020-12-03 2025-08-14 Scribe Therapeutics Inc. Engineered class 2 type v crispr systems
WO2023168000A1 (en) * 2022-03-03 2023-09-07 The Regents Of The University Of California Compositions and methods for treatment of angelman syndrome
WO2023184108A1 (en) * 2022-03-28 2023-10-05 Huigene Therapeutics Co., Ltd. Crispr-cas13 system for treating ube3a-associated diseases
CN116004788B (zh) * 2022-08-01 2024-05-31 湖南家辉生物技术有限公司 一种Angelman综合症致病基因UBE3A突变位点的应用及其诊断试剂
WO2026006542A2 (en) * 2024-06-26 2026-01-02 Yale University Compositions and methods for crispr/cas9 based reactivation of human angelman syndrome
CN121992041A (zh) * 2024-11-06 2026-05-08 中国科学院脑科学与智能技术卓越创新中心 靶向ube3a等位基因建立天使综合征动物模型的方法和应用
CN119177283B (zh) * 2024-11-25 2025-03-07 嘉检(广州)生物工程技术有限公司 用于pws/as快速诊断的引物组、试剂盒及系统

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2809199T3 (es) * 2012-06-25 2021-03-03 Ionis Pharmaceuticals Inc Modulación de la expresión de UBE3A-ATS
SG10201707569YA (en) * 2012-12-12 2017-10-30 Broad Inst Inc Delivery, Engineering and Optimization of Systems, Methods and Compositions for Sequence Manipulation and Therapeutic Applications
WO2016028843A2 (en) * 2014-08-19 2016-02-25 President And Fellows Of Harvard College Rna-guided systems for probing and mapping of nucleic acids
WO2016086104A1 (en) * 2014-11-25 2016-06-02 Ionis Pharmaceuticals, Inc. Modulation of ube3a-ats expression
US20180346531A1 (en) * 2015-09-15 2018-12-06 Regents Of The University Of California Compositions and methods for delivering biotherapeutics
EP3443081A4 (en) * 2016-04-13 2019-10-30 Duke University CRISPR / CAS9-BASED REPRESSORS FOR IN VIVO SHUT-OFF OF GEN-TARGETS AND METHOD OF USE
EP3716767A4 (en) * 2017-10-24 2021-11-24 Sangamo Therapeutics, Inc. METHODS AND COMPOSITIONS FOR TREATMENT OF RARE DISEASES
PL3717646T3 (pl) * 2017-12-01 2025-10-27 The Texas A&M University System Leczenie antysensowe zespołu angelmana
EP3720508A4 (en) * 2017-12-08 2021-09-01 University of Connecticut COMPOSITIONS AND METHODS FOR TREATMENT OF GENOMIC FOOTPRINT DISORDERS

Also Published As

Publication number Publication date
EP3758714A1 (en) 2021-01-06
EP3758714A4 (en) 2021-12-01
CN111770758A (zh) 2020-10-13
WO2019168950A1 (en) 2019-09-06
US20210054370A1 (en) 2021-02-25
JP2021513866A (ja) 2021-06-03

Similar Documents

Publication Publication Date Title
US20210054370A1 (en) Methods and compositions for treating angelman syndrome
US12018255B2 (en) Compositions and methods for treating disorders of genomic imprinting
RU2767201C2 (ru) Искусственная модификация генома для регуляции экспрессии гена
JP2020506948A (ja) ハプロ不全のための遺伝子治療
WO2019224864A1 (ja) Ｓｃｎ１ａ遺伝子の発現増強法とそれによるドラベ症候群の治療法
US20250250631A1 (en) Kelch Domain Containing 7B (KLHDC7B) Variants And Uses Thereof
JP2018011525A (ja) ゲノム編集方法
CN117363594A (zh) 一种可控制的RNA m6A去甲基化编辑系统及其应用
US12590323B2 (en) Compositions for use in treating autosomal dominant BEST1-related retinopathies
CN113201559B (zh) 一种人源胰腺炎相关cel-hyb1基因变异敲入小鼠的构建方法与应用
JP2023544382A5 (enExample)
CA3167756A1 (en) Treatment of ophthalmic conditions with son of sevenless 2 (sos2) inhibitors
JP2025538153A (ja) 拡張型心筋症を引き起こす変異の修正のための筋特異的塩基エディター
CN120500343A (zh) 用于在治疗与雄激素受体(ar)的功能获得和/或ar辅激活物的过表达相关的疾病中使用的lsd1抑制剂和prmt6抑制剂
HK40037193A (en) Methods and compositions for treating angelman syndrome
WO2021163515A1 (en) Crispr-cas9 mediated disruption of alcam gene inhibits adhesion and trans-endothelial migration of myeloid cells
EP4114975B1 (en) Fascin-2 (fscn2) variant and use thereof
US20230108957A1 (en) Treatment Of Psychiatric Disorders And Psychiatric Disorder-Associated MRI Phenotypes With Stabilin 1 (STAB1) Inhibitors
US20230192864A1 (en) Treatment Of Lung Conditions With Integrin Subunit Alpha 1 (ITGA1) Inhibitors
WO2025244671A1 (en) Compositions for use in treating haploinsufficiency diseases
CN117795075A (zh) 使用溶质载剂家族27成员3(slc27a3)抑制剂治疗哮喘的方法
WO2025094924A1 (ja) 酵素、酵素複合体、および、これらの利用
CA3232251A1 (en) Treatment of glaucoma with rho guanine nucleotide exchange factor 12 (arhgef12) inhibitors
WO2025104560A1 (en) Identification of genomic sequences for ataxias and epilepsies treatment
WO2026036033A1 (en) Products and methods for treatment of autosomal dominant genetic diseases involving diversified disease causing mutations

Legal Events

Date Code Title Description
EEER Examination request

Effective date: 20220917

D15 Examination report completed

Free format text: ST27 STATUS EVENT CODE: A-2-2-D10-D15-D126 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: EXAMINER'S REPORT

Effective date: 20250708

W00 Other event occurred

Free format text: ST27 STATUS EVENT CODE: A-2-2-W10-W00-W100 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: LETTER SENT

Effective date: 20250904

U13 Renewal or maintenance fee not paid

Free format text: ST27 STATUS EVENT CODE: N-2-6-U10-U13-U300 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: DEEMED ABANDONED - FAILURE TO RESPOND TO MAINTENANCE FEE NOTICE

Effective date: 20251104

B12 Application deemed to be withdrawn, abandoned or lapsed

Free format text: ST27 STATUS EVENT CODE: N-6-6-B10-B12-B303 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: DEEMED ABANDONED - FAILURE TO RESPOND TO AN EXAMINER'S REQUISITION

Effective date: 20251110

W00 Other event occurred

Free format text: ST27 STATUS EVENT CODE: N-6-6-W10-W00-W100 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: LETTER SENT

Effective date: 20260102