CA3215478A1 - Compositions and methods useful for the treatment of h-abc leukodystrophy - Google Patents

Compositions and methods useful for the treatment of h-abc leukodystrophy

Info

Publication number
CA3215478A1
CA3215478A1 CA3215478A CA3215478A CA3215478A1 CA 3215478 A1 CA3215478 A1 CA 3215478A1 CA 3215478 A CA3215478 A CA 3215478A CA 3215478 A CA3215478 A CA 3215478A CA 3215478 A1 CA3215478 A1 CA 3215478A1
Authority
CA
Canada
Prior art keywords
tubb4a
nucleic acid
aso
cells
vector
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
CA3215478A
Other languages
English (en)
French (fr)
Inventor
Adeline VANDERVER
Sunetra SASE
Akshata ALMAD
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.)
Childrens Hospital of Philadelphia CHOP
Original Assignee
Childrens Hospital of Philadelphia CHOP
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 Childrens Hospital of Philadelphia CHOP filed Critical Childrens Hospital of Philadelphia CHOP
Publication of CA3215478A1 publication Critical patent/CA3215478A1/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
    • 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
    • A61K31/7125—Nucleic acids or oligonucleotides having modified internucleoside linkage, i.e. other than 3'-5' phosphodiesters
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/14—Drugs for disorders of the nervous system for treating abnormal movements, e.g. chorea, dyskinesia
    • 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
    • C12N2310/323—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
    • C12N2310/33—Chemical structure of the base
    • C12N2310/334—Modified C
    • C12N2310/3341—5-Methylcytosine
    • 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
    • C12N2310/341—Gapmers, i.e. of the type ===---===
    • 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
    • C12N2330/00—Production
    • C12N2330/30—Production chemically synthesised
    • C12N2330/31—Libraries, arrays

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Biomedical Technology (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Psychology (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Neurology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Microbiology (AREA)
  • Neurosurgery (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Epidemiology (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)
CA3215478A 2021-04-16 2022-04-18 Compositions and methods useful for the treatment of h-abc leukodystrophy Pending CA3215478A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202163175988P 2021-04-16 2021-04-16
US63/175,988 2021-04-16
PCT/US2022/025246 WO2022221777A1 (en) 2021-04-16 2022-04-18 Compositions and methods useful for the treatment of h-abc leukodystrophy

Publications (1)

Publication Number Publication Date
CA3215478A1 true CA3215478A1 (en) 2022-10-20

Family

ID=83639782

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3215478A Pending CA3215478A1 (en) 2021-04-16 2022-04-18 Compositions and methods useful for the treatment of h-abc leukodystrophy

Country Status (7)

Country Link
US (1) US20240200065A1 (enExample)
EP (1) EP4323063A4 (enExample)
JP (1) JP2024515289A (enExample)
CN (1) CN117561067A (enExample)
AU (1) AU2022257101A1 (enExample)
CA (1) CA3215478A1 (enExample)
WO (1) WO2022221777A1 (enExample)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2025030064A1 (en) * 2023-08-01 2025-02-06 Ionis Pharmaceuticals, Inc. Compounds and methods for reducing tubb4a expression

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2003295600A1 (en) * 2002-11-14 2004-06-15 Dharmacon, Inc. Functional and hyperfunctional sirna
WO2020227713A1 (en) * 2019-05-09 2020-11-12 The Children's Hospital Of Philadelphia Compositions and methods for the treatment of leukodystrophy and whole animal and cellular models for the identifying efficacious agents for treatment of the same

Also Published As

Publication number Publication date
EP4323063A1 (en) 2024-02-21
WO2022221777A1 (en) 2022-10-20
US20240200065A1 (en) 2024-06-20
CN117561067A (zh) 2024-02-13
AU2022257101A9 (en) 2023-11-09
JP2024515289A (ja) 2024-04-08
AU2022257101A1 (en) 2023-11-02
EP4323063A4 (en) 2025-05-14

Similar Documents

Publication Publication Date Title
US12391920B2 (en) Models of tauopathy
JP2024096438A (ja) ゲノム編集の方法及び構築物
JP2025118647A (ja) 白質ジストロフィーの治療のための組成物および方法、ならびに白質ジストロフィーの治療のための有効な薬剤を同定するための動物全体および細胞モデル
US20260035420A1 (en) Aggregation-resistant variants of tdp-43
US20240200065A1 (en) Compositions and methods useful for the treatment of h-abc leukodystrophy
Polikarpova et al. Genetically modified animal models of hereditary diseases for testing of gene-directed therapy
JP2023507741A (ja) ハンチントン病を処置するための方法
US20250381303A1 (en) Crispr interference therapeutics for c9orf72 repeat expansion disease
US20250127812A1 (en) Compositions and methods for engineering stable tregs
Li et al. The chicken HMG-17 gene is dispensable for cell growth in vitro
Baughn Therapeutic Restoration of Stathmin-2 RNA Processing in TDP-43 Proteinopathies
KR20250157548A (ko) Htt 트랜스 스플라이싱 분자
HK40100119A (zh) 治疗神经系统疾病的方法
HK40044785A (en) Models of tauopathy
HK40044785B (en) Models of tauopathy
HK40083786A (en) Methods for treating huntington's disease
Rodriguez Characterization of the effects of reduced mutant huntingtin in the R6/1 model of Huntington's disease

Legal Events

Date Code Title Description
MFA Maintenance fee for application paid

Free format text: FEE DESCRIPTION TEXT: MF (APPLICATION, 3RD ANNIV.) - STANDARD

Year of fee payment: 3

U00 Fee paid

Free format text: ST27 STATUS EVENT CODE: A-1-1-U10-U00-U101 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: MAINTENANCE REQUEST RECEIVED

Effective date: 20250623

U11 Full renewal or maintenance fee paid

Free format text: ST27 STATUS EVENT CODE: A-1-1-U10-U11-U102 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: MAINTENANCE FEE PAYMENT PAID IN FULL

Effective date: 20250623

W00 Other event occurred

Free format text: ST27 STATUS EVENT CODE: A-1-1-W10-W00-W100 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: LETTER SENT

Effective date: 20251128

MFA Maintenance fee for application paid

Free format text: FEE DESCRIPTION TEXT: MF (APPLICATION, 4TH ANNIV.) - STANDARD

Year of fee payment: 4

U00 Fee paid

Free format text: ST27 STATUS EVENT CODE: A-1-1-U10-U00-U101 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: MAINTENANCE REQUEST RECEIVED

Effective date: 20260323

U11 Full renewal or maintenance fee paid

Free format text: ST27 STATUS EVENT CODE: A-1-1-U10-U11-U102 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: MAINTENANCE FEE PAYMENT PAID IN FULL

Effective date: 20260323

D11 Substantive examination requested

Free format text: ST27 STATUS EVENT CODE: A-1-1-D10-D11-D117 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: REQUEST FOR EXAMINATION RECEIVED

Effective date: 20260416

W00 Other event occurred

Free format text: ST27 STATUS EVENT CODE: A-1-1-W10-W00-W111 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: CORRESPONDENT DETERMINED COMPLIANT

Effective date: 20260416

D00 Search and/or examination requested or commenced

Free format text: ST27 STATUS EVENT CODE: A-1-1-D10-D00-D118 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: REQUEST FOR EXAMINATION REQUIREMENTS DETERMINED COMPLIANT

Effective date: 20260422

D11 Substantive examination requested

Free format text: ST27 STATUS EVENT CODE: A-1-2-D10-D11-D155 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: ALL REQUIREMENTS FOR EXAMINATION DETERMINED COMPLIANT

Effective date: 20260422