CN112601454B - 用于治疗杜兴肌营养不良的组合物和方法 - Google Patents

用于治疗杜兴肌营养不良的组合物和方法 Download PDF

Info

Publication number
CN112601454B
CN112601454B CN201980040365.8A CN201980040365A CN112601454B CN 112601454 B CN112601454 B CN 112601454B CN 201980040365 A CN201980040365 A CN 201980040365A CN 112601454 B CN112601454 B CN 112601454B
Authority
CN
China
Prior art keywords
dystrophin
helical
triple
repeat
mutein
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
CN201980040365.8A
Other languages
English (en)
Chinese (zh)
Other versions
CN112601454A (zh
Inventor
H·斯特德曼
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 Pennsylvania Penn
Original Assignee
University of Pennsylvania Penn
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 Pennsylvania Penn filed Critical University of Pennsylvania Penn
Publication of CN112601454A publication Critical patent/CN112601454A/zh
Application granted granted Critical
Publication of CN112601454B publication Critical patent/CN112601454B/zh
Active legal-status Critical Current
Anticipated expiration legal-status Critical

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
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4707—Muscular dystrophy
    • C07K14/4708—Duchenne dystrophy
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
    • 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
    • C12N2750/14121—Viruses as such, e.g. new isolates, mutants or their genomic sequences
    • 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
    • C12N2750/14122—New viral proteins or individual genes, new structural or functional aspects of known viral proteins or 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
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Toxicology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Microbiology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Plant Pathology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Animal Behavior & Ethology (AREA)
  • Epidemiology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
CN201980040365.8A 2018-04-16 2019-04-16 用于治疗杜兴肌营养不良的组合物和方法 Active CN112601454B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862658464P 2018-04-16 2018-04-16
US62/658464 2018-04-16
PCT/US2019/027675 WO2019204303A2 (en) 2018-04-16 2019-04-16 Compositions and methods for treating duchenne muscular dystrophy

Publications (2)

Publication Number Publication Date
CN112601454A CN112601454A (zh) 2021-04-02
CN112601454B true CN112601454B (zh) 2023-10-27

Family

ID=68240632

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201980040365.8A Active CN112601454B (zh) 2018-04-16 2019-04-16 用于治疗杜兴肌营养不良的组合物和方法

Country Status (6)

Country Link
US (2) US12460226B2 (https=)
EP (1) EP3780952A4 (https=)
JP (1) JP7575273B2 (https=)
CN (1) CN112601454B (https=)
CA (1) CA3099958A1 (https=)
WO (1) WO2019204303A2 (https=)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2023510392A (ja) * 2020-01-16 2023-03-13 武田薬品工業株式会社 フェニルケトン尿症に対するアデノ随伴ウイルスベースの遺伝子治療
CN113999861B (zh) * 2021-09-08 2024-03-15 三峡大学 腺相关病毒衣壳蛋白保守区多克隆抗体的制备方法及应用

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN102203253A (zh) * 2008-10-24 2011-09-28 Avi生物制药公司 用于dmd的多外显子跳跃组合物
CN107250364A (zh) * 2015-01-16 2017-10-13 华盛顿大学 新的微小肌养蛋白及相关使用方法
US20170368198A1 (en) * 2016-06-21 2017-12-28 The University Of North Carolina At Chapel Hill Optimized mini-dystrophin genes and expression cassettes and their use
WO2018053632A1 (en) * 2016-09-23 2018-03-29 UNIVERSITé LAVAL Methods of modifying the dystrophin gene and restoring dystrophin expression and uses thereof

Family Cites Families (44)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
DE69333886T2 (de) 1992-11-18 2006-07-27 Arch Development Corp., Chicago Adenovirus-gelenkter Gen-Transfer zum Herz-und glattem vaskulären Muskel
US20030148968A1 (en) 1995-02-28 2003-08-07 Hammond H. Kirk Techniques and compositions for treating cardiovascular disease by in vivo gene delivery
US6162796A (en) 1995-09-27 2000-12-19 The Rockefeller University Method for transferring genes to the heart using AAV vectors
GB9622174D0 (en) 1995-12-19 1996-12-18 Medical Res Council Gene expression
US6759237B1 (en) 1998-11-05 2004-07-06 The Trustees Of The University Of Pennsylvania Adeno-associated virus serotype 1 nucleic acid sequences, vectors and host cells containing same
US7078387B1 (en) 1998-12-28 2006-07-18 Arch Development Corp. Efficient and stable in vivo gene transfer to cardiomyocytes using recombinant adeno-associated virus vectors
EP1139751A4 (en) 1998-12-28 2003-03-19 Arch Dev Corp EFFICIENT AND STABLE -I (IN VIVO) GENE TRANSFER TO CARDIOMYCETS USING RECOMBINANT ADENO-ASSOCIATED VIRUS VECTORS
US20040192593A1 (en) 1999-07-26 2004-09-30 Baylor College Of Medicine Protease resistant ti-growth hormone releasing hormone
CA2379166C (en) 1999-08-09 2013-03-26 Targeted Genetics Corporation Enhancement of expression of a single-stranded, heterologous nucleotide sequence from recombinant viral vectors by designing the sequence such that it forms instrastrand base pairs
AU2001249315A1 (en) 2000-03-22 2001-10-03 Rheogene, Inc. Ecdysone receptor-based inducible gene expression system
ES2330615T3 (es) 2000-04-28 2009-12-14 Asklepios Biopharmaceutical, Inc. Secuencias de adn que codifican para minigenes de distrofina y metodos de uso de las mismas.
US8105825B2 (en) 2000-10-03 2012-01-31 Intrexon Corporation Multiple inducible gene regulation system
WO2002066614A2 (en) 2001-02-20 2002-08-29 Rheogene Holdings, Inc. Chimeric retinoid x receptors and their use in a novel ecdysone receptor-based inducible gene expression system
EP1373470B1 (en) 2001-02-20 2013-04-24 Intrexon Corporation Novel substitution mutant receptors and their use in a nuclear receptor-based inducible gene expression system
JP4955904B2 (ja) 2001-02-20 2012-06-20 イントレキソン コーポレーション 新規エクジソン受容体／無脊椎動物レチノイドｘ受容体−ベースの誘導性遺伝子発現システム
EP1534738B1 (en) 2001-02-20 2012-06-20 Intrexon Corporation Novel substitution mutant receptors and their use in a nuclear receptor-based inducible gene expression system
MX359371B (es) 2001-11-13 2018-09-25 Univ Pennsylvania Un metodo para detectar y/o identificar secuencias del virus adeno-asociado y aislamiento de secuencias novedosas identificadas de ese modo.
PT1453547T (pt) 2001-12-17 2016-12-28 Univ Pennsylvania Sequências do vírus adeno-associado (aav) do serotipo 8, vetores contendo as mesmas, e utilizações destas
WO2005027995A2 (en) 2003-09-19 2005-03-31 The Trustees Of The University Of Pennsylvania Global myocardial perfusion catheter
WO2005030292A2 (en) 2003-09-26 2005-04-07 The Trustees Of The University Of Pennsylvania Methods, compositions and apparatus for delivering heterologous molecules to cells
EP2345731B1 (en) 2003-09-30 2015-10-21 The Trustees of the University of Pennsylvania Adeno-associated virus (AAV) clades, sequences, vectors containing same, and uses thereof
US7771993B2 (en) 2004-01-23 2010-08-10 The Trustees Of The University Of Pennsylvania Microutrophin and uses thereof
US7935510B2 (en) 2004-04-30 2011-05-03 Intrexon Corporation Mutant receptors and their use in a nuclear receptor-based inducible gene expression system
ES2525067T3 (es) 2005-04-07 2014-12-17 The Trustees Of The University Of Pennsylvania Método de incremento de la función de un vector de AAV
JP4495210B2 (ja) 2005-06-09 2010-06-30 パナソニック株式会社 振幅誤差補償装置及び直交度誤差補償装置
US7774057B2 (en) 2005-09-06 2010-08-10 Cardiac Pacemakers, Inc. Method and apparatus for device controlled gene expression for cardiac protection
CN101711164B (zh) 2007-01-18 2014-06-04 密苏里-哥伦比亚大学 可修复肌纤维膜中的神经元型一氧化氮合酶的合成小/微-抗肌萎缩蛋白基因
US9217155B2 (en) 2008-05-28 2015-12-22 University Of Massachusetts Isolation of novel AAV'S and uses thereof
US8734809B2 (en) 2009-05-28 2014-05-27 University Of Massachusetts AAV's and uses thereof
WO2011126808A2 (en) 2010-03-29 2011-10-13 The Trustees Of The University Of Pennsylvania Pharmacologically induced transgene ablation system
EP2561073B1 (en) 2010-04-23 2016-08-24 University of Massachusetts Cns targeting aav vectors and methods of use thereof
US8927514B2 (en) 2010-04-30 2015-01-06 City Of Hope Recombinant adeno-associated vectors for targeted treatment
TR201908020T4 (tr) 2011-02-17 2019-06-21 Univ Pennsylvania Doku özgüllüğünü değiştirmek ve aav9-aracılı gen transferini geliştirmek için bileşimler ve yöntemler.
FR2977562B1 (fr) 2011-07-06 2016-12-23 Gaztransport Et Technigaz Cuve etanche et thermiquement isolante integree dans une structure porteuse
AU2014235096B2 (en) 2013-03-15 2020-03-19 The Trustees Of The University Of Pennsylvania Compositions and methods for treating MPSI
ES2739288T3 (es) 2013-09-13 2020-01-30 California Inst Of Techn Recuperación selectiva
CN106232618A (zh) 2013-10-11 2016-12-14 马萨诸塞眼科耳科诊所 预测祖先病毒序列的方法及其用途
PL3097197T3 (pl) 2014-01-21 2021-06-28 Vrije Universiteit Brussel Mięśniowo-specyficzne elementy regulatorowe kwasów nukleinowych oraz sposoby i ich zastosowanie
WO2015164786A1 (en) 2014-04-25 2015-10-29 University Of Massachusetts Recombinant aav vectors useful for reducing immunity against transgene products
AU2015320694B2 (en) 2014-09-24 2021-11-11 City Of Hope Adeno-associated virus vector variants for high efficiency genome editing and methods thereof
CN107073051B (zh) 2014-10-21 2021-08-24 马萨诸塞大学 重组aav变体及其用途
US11046955B2 (en) 2015-04-24 2021-06-29 University Of Massachusetts Modified AAV constructs and uses thereof
EP3387138B1 (en) 2015-12-11 2022-01-26 The Trustees Of The University Of Pennsylvania Scalable purification method for aav9
SG11201808812RA (en) 2016-04-15 2018-11-29 Univ Pennsylvania Novel aav8 mutant capsids and compositions containing same

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN102203253A (zh) * 2008-10-24 2011-09-28 Avi生物制药公司 用于dmd的多外显子跳跃组合物
CN107250364A (zh) * 2015-01-16 2017-10-13 华盛顿大学 新的微小肌养蛋白及相关使用方法
US20170368198A1 (en) * 2016-06-21 2017-12-28 The University Of North Carolina At Chapel Hill Optimized mini-dystrophin genes and expression cassettes and their use
WO2018053632A1 (en) * 2016-09-23 2018-03-29 UNIVERSITé LAVAL Methods of modifying the dystrophin gene and restoring dystrophin expression and uses thereof

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
"dystrophin Dp427p1 isoform [Homo sapiens]";Tuffery-Giraud S等;《GenBank Database》;20171211;Accession NO：NP_004000.1 *
"Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes";VanBelzen, DJ等;《MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT》;20170317;第4卷;第62-71页 *
"utrophin (dystrophin related protein) [Homo sapiens]";Tinsley,J.M.等;《GenBank Database》;20081007;Accession NO：CAA48829.1 *
"重组腺相关病毒载体介导的小基因SMCKA3999治疗Duchenne肌营养不良小鼠的研究";黎红华等;《中华神经科杂志》;20050930(第9期);第27-30页 *

Also Published As

Publication number Publication date
EP3780952A2 (en) 2021-02-24
WO2019204303A2 (en) 2019-10-24
JP2021521782A (ja) 2021-08-30
WO2019204303A3 (en) 2019-11-28
CN112601454A (zh) 2021-04-02
EP3780952A4 (en) 2022-03-09
US12460226B2 (en) 2025-11-04
BR112020021179A2 (pt) 2021-03-02
JP7575273B2 (ja) 2024-10-29
US20260109998A1 (en) 2026-04-23
US20210155956A1 (en) 2021-05-27
CA3099958A1 (en) 2019-10-24

Similar Documents

Publication Publication Date Title
JP7389040B2 (ja) 遺伝子治療のための修飾ｒＡＡＶキャプシドタンパク質
CA2939950C (en) Compositions useful in treatment of ornithine transcarbamylase (otc) deficiency
KR20200107949A (ko) 조작된 dna 결합 단백질
US12544460B2 (en) AAV gene therapy for treating nephrotic syndrome
US20260109998A1 (en) Compositions and methods for treating duchenne muscular dystrophy
KR20180043373A (ko) 색소성망막염의 치료
CN116685329B (zh) 核酸构建体及其用于治疗脊髓性肌肉萎缩症的用途
KR20220081971A (ko) 관절염 질환 치료용 변형된 aav 캡시드 단백질
CN113710693B (zh) Dna结合结构域反式激活因子及其用途
KR20210040984A (ko) 점액다당류증 iva의 치료
KR102892243B1 (ko) 21-하이드록실라제 결핍을 위한 아데노-관련 바이러스 유전자 요법
CA3226402A1 (en) Adeno-associated viral vector compositions and methods of promoting muscle regeneration
KR20220145838A (ko) Gm1 강글리오사이드증을 치료하는 데 유용한 조성물
EP4410988A1 (en) An aav2-vector variant for targeted transfer of genes
KR20260003703A (ko) 보체 장애의 치료를 위한 aav 변이체
HK40049102B (zh) 用於治疗杜兴肌营养不良的组合物和方法
US20220143217A1 (en) Neuroprotective gene therapy targeting the akt pathway
HK40049102A (en) Compositions and methods for treating duchenne muscular dystrophy
BR122024005873A2 (pt) Proteína mutante recombinante da superfamília da distrofina, vírus adeno-associado recombinante, sequência de ácido nucleico recombinante, plasmídeo, composição farmacêutica e seus usos
US12121593B2 (en) Therapy
BR112020021179B1 (pt) Proteína mutante recombinante da superfamília da distrofina, vírus adeno-associado recombinante e seus usos
CN117836420A (zh) 重组tert编码病毒基因组和运载体
HK40109651A (zh) 重组tert编码病毒基因组和运载体
EA045763B1 (ru) Модифицированный капсидный белок raav для генной терапии

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
REG Reference to a national code

Ref country code: HK

Ref legal event code: DE

Ref document number: 40049102

Country of ref document: HK

GR01 Patent grant
GR01 Patent grant