JP7759174B2 - 繊毛病のための遺伝子治療 - Google Patents

繊毛病のための遺伝子治療

Info

Publication number
JP7759174B2
JP7759174B2 JP2019560667A JP2019560667A JP7759174B2 JP 7759174 B2 JP7759174 B2 JP 7759174B2 JP 2019560667 A JP2019560667 A JP 2019560667A JP 2019560667 A JP2019560667 A JP 2019560667A JP 7759174 B2 JP7759174 B2 JP 7759174B2
Authority
JP
Japan
Prior art keywords
seq
bbs1
gene
protein
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.)
Active
Application number
JP2019560667A
Other languages
English (en)
Japanese (ja)
Other versions
JP2020518269A5 (https=
JP2020518269A (ja
Inventor
ビールズ，フィリップ
ヘルナンデス，ビクター
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.)
UCL Business Ltd
Original Assignee
UCL Business Ltd
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 UCL Business Ltd filed Critical UCL Business Ltd
Publication of JP2020518269A publication Critical patent/JP2020518269A/ja
Publication of JP2020518269A5 publication Critical patent/JP2020518269A5/ja
Priority to JP2025093546A priority Critical patent/JP2025120285A/ja
Application granted granted Critical
Publication of JP7759174B2 publication Critical patent/JP7759174B2/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K35/00—Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/66—Microorganisms or materials therefrom
    • A61K35/76—Viruses; Subviral particles; Bacteriophages
    • A61K35/761—Adenovirus
    • 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
    • A61K48/0066—Manipulation of the nucleic acid to modify its expression pattern, e.g. enhance its duration of expression, achieved by the presence of particular introns in the delivered nucleic acid
    • 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
    • A61K48/0083—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 administration regime
    • 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
    • C07K14/4702—Regulators; Modulating 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
    • C12N15/63—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
    • 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
    • C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Organic Chemistry (AREA)
  • Biochemistry (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Epidemiology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Zoology (AREA)
  • Virology (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Microbiology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Toxicology (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Mycology (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
JP2019560667A 2017-05-05 2018-05-04 繊毛病のための遺伝子治療 Active JP7759174B2 (ja)

Priority Applications (1)

Application Number Priority Date Filing Date Title
JP2025093546A JP2025120285A (ja) 2017-05-05 2025-06-04 繊毛病のための遺伝子治療

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
GBGB1707212.5A GB201707212D0 (en) 2017-05-05 2017-05-05 Gene therapy for ciliopathies
GB1707212.5 2017-05-05
PCT/GB2018/051219 WO2018203092A1 (en) 2017-05-05 2018-05-04 Gene therapy for ciliopathies

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2025093546A Division JP2025120285A (ja) 2017-05-05 2025-06-04 繊毛病のための遺伝子治療

Publications (3)

Publication Number Publication Date
JP2020518269A JP2020518269A (ja) 2020-06-25
JP2020518269A5 JP2020518269A5 (https=) 2021-07-26
JP7759174B2 true JP7759174B2 (ja) 2025-10-23

Family

ID=59065740

Family Applications (2)

Application Number Title Priority Date Filing Date
JP2019560667A Active JP7759174B2 (ja) 2017-05-05 2018-05-04 繊毛病のための遺伝子治療
JP2025093546A Pending JP2025120285A (ja) 2017-05-05 2025-06-04 繊毛病のための遺伝子治療

Family Applications After (1)

Application Number Title Priority Date Filing Date
JP2025093546A Pending JP2025120285A (ja) 2017-05-05 2025-06-04 繊毛病のための遺伝子治療

Country Status (8)

Country Link
US (2) US12171794B2 (https=)
EP (1) EP3628011A1 (https=)
JP (2) JP7759174B2 (https=)
CN (1) CN110753559A (https=)
AU (1) AU2018262427B2 (https=)
CA (1) CA3060187A1 (https=)
GB (1) GB201707212D0 (https=)
WO (1) WO2018203092A1 (https=)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201707212D0 (en) 2017-05-05 2017-06-21 Ucl Business Plc Gene therapy for ciliopathies
CN118949075A (zh) * 2019-02-14 2024-11-15 埃泽瑞斯公司 纤毛疾病的治疗
KR20220083714A (ko) * 2019-10-17 2022-06-20 스트라이드바이오 인코포레이티드 니만-피크 질환 c형의 치료를 위한 아데노-연관 바이러스 벡터
GB202005641D0 (en) * 2020-04-17 2020-06-03 Ucl Business Plc Gene therapy for bardet-biedl syndrome
CN116042719B (zh) * 2022-12-28 2025-11-11 蓝图生物医药(广州)有限公司 一种重组腺相关病毒载体及其应用
WO2025049923A2 (en) * 2023-08-31 2025-03-06 The Board Of Trustees Of The Leland Stanford Junior University Novel treatments of ciliopathies

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2013531490A (ja) 2010-06-10 2013-08-08 ラボラトリオス・デル・ドクトル・エステベ・ソシエダッド・アノニマ 疾患の治療のためのベクター及び配列

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6962788B2 (en) 2002-05-30 2005-11-08 University Of Iowa Research Foundation Identification of a gene causing the most common form of bardet-biedl syndrome and uses thereof
US8163482B2 (en) * 2006-02-23 2012-04-24 Nicholas Katsanis BBS10 related diagnostic methods for Bardet-Biedl syndrome
ES2697249T3 (es) * 2013-03-11 2019-01-22 Fond Telethon miR-204 y miR-211 y usos de los mismos
GB201707212D0 (en) 2017-05-05 2017-06-21 Ucl Business Plc Gene therapy for ciliopathies

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2013531490A (ja) 2010-06-10 2013-08-08 ラボラトリオス・デル・ドクトル・エステベ・ソシエダッド・アノニマ 疾患の治療のためのベクター及び配列

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
Corey L. Williams et al., Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome, 2017年4月5日, VOl.25, No.4, p.904-916, http://dx.doi.org/10.1016/j.ymthe.2017.02.006
DRACK, Arlene V et al., Overcoming the overexpression toxicity of gene replacement therapy for Bardet Biedl Syndrome type 1, Invest. Ophthalmol. Vis. Sci.,2014年4月, Vol.55, 4378, [online], [retrieved on 2025.02.25], <URL: https://iovs.arvojournals.org/article.aspx?articleid=2269884>
Seongjin Seo et al., Subretinal gene theray of mice with Bardet-Biedl syndrome type 1, Invest. Ophthalmol. Vis. Sci., 2013年9月11日, Vol.54, No.9, p.6118-6132, http://dx.doi.org/10.1167/iovs.13-11673

Also Published As

Publication number Publication date
GB201707212D0 (en) 2017-06-21
AU2018262427B2 (en) 2024-02-29
EP3628011A1 (en) 2020-04-01
CN110753559A (zh) 2020-02-04
US20250057899A1 (en) 2025-02-20
CA3060187A1 (en) 2018-11-08
JP2025120285A (ja) 2025-08-15
AU2018262427A1 (en) 2019-11-14
US20200069753A1 (en) 2020-03-05
JP2020518269A (ja) 2020-06-25
US12171794B2 (en) 2024-12-24
WO2018203092A1 (en) 2018-11-08

Similar Documents

Publication Publication Date Title
JP7759174B2 (ja) 繊毛病のための遺伝子治療
US11903985B2 (en) Gene therapies for lysosomal disorders
US20220265861A1 (en) Adeno-associated viral vectors useful in treatment of spinal muscular atropy
CN107881198A (zh) 用于无脉络膜的基因疗法的aav载体
US10849991B2 (en) Gene therapy for the treatment of a disease of retinal cone cells
BR112020010977A2 (pt) terapia de gene para mucopolissacaridose iiib
US20230310654A1 (en) Gene therapies for lysosomal disorders
BR112020010735A2 (pt) terapia genética para mucopolissacaridose iii a
US20230220420A1 (en) Gene therapy for bardet-biedl syndrome
WO2023231778A1 (zh) 用于治疗粘多糖贮积症iiia型的转基因表达盒
US20220370638A1 (en) Compositions and methods for treatment of maple syrup urine disease
US20240207450A1 (en) Gene therapies for stargardt disease (abca4)
US20230405149A1 (en) Gene therapies for neurodegenerative disease
EP4132562A1 (en) Adeno-associated virus compositions for ids gene transfer and methods of use thereof
JP2024515612A (ja) 球脊髄性筋萎縮症（ｓｂｍａ）の治療に有用な組成物
WO2024110770A1 (en) A new promoter for retinal pigment epithelium (rpe) targeted gene therapy
CN121693571A (zh) 用于治疗中枢神经系统蛋白质病的重组腺相关病毒载体

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20210428

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20210428

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20220222

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20220301

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20220530

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20220901

A02 Decision of refusal

Free format text: JAPANESE INTERMEDIATE CODE: A02

Effective date: 20221220

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20230420

C60 Trial request (containing other claim documents, opposition documents)

Free format text: JAPANESE INTERMEDIATE CODE: C60

Effective date: 20230420

A911 Transfer to examiner for re-examination before appeal (zenchi)

Free format text: JAPANESE INTERMEDIATE CODE: A911

Effective date: 20230608

A912 Re-examination (zenchi) completed and case transferred to appeal board

Free format text: JAPANESE INTERMEDIATE CODE: A912

Effective date: 20230804

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20250604

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20251010

R150 Certificate of patent or registration of utility model

Ref document number: 7759174

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150