SMT202000423T1 - Terapie di aumento genico per degenerazione retinica ereditaria causata da mutazioni del gene prpf31 - Google Patents
Terapie di aumento genico per degenerazione retinica ereditaria causata da mutazioni del gene prpf31Info
- Publication number
- SMT202000423T1 SMT202000423T1 SM20200423T SMT202000423T SMT202000423T1 SM T202000423 T1 SMT202000423 T1 SM T202000423T1 SM 20200423 T SM20200423 T SM 20200423T SM T202000423 T SMT202000423 T SM T202000423T SM T202000423 T1 SMT202000423 T1 SM T202000423T1
- Authority
- SM
- San Marino
- Prior art keywords
- gene
- mutations
- prpf31
- retinal degeneration
- degeneration caused
- Prior art date
Links
Classifications
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- 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
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K9/00—Medicinal preparations characterised by special physical form
- A61K9/0012—Galenical forms characterised by the site of application
- A61K9/0048—Eye, e.g. artificial tears
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P27/00—Drugs for disorders of the senses
- A61P27/02—Ophthalmic agents
-
- 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
-
- 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
- C12N15/87—Introduction of foreign genetic material using processes not otherwise provided for, e.g. co-transformation
- C12N15/90—Stable introduction of foreign DNA into chromosome
-
- 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
-
- 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
- C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host
-
- 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
- C12N2830/00—Vector systems having a special element relevant for transcription
- C12N2830/008—Vector systems having a special element relevant for transcription cell type or tissue specific enhancer/promoter combination
Landscapes
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Molecular Biology (AREA)
- Organic Chemistry (AREA)
- Zoology (AREA)
- Biomedical Technology (AREA)
- Wood Science & Technology (AREA)
- General Engineering & Computer Science (AREA)
- Animal Behavior & Ethology (AREA)
- Pharmacology & Pharmacy (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Medicinal Chemistry (AREA)
- Epidemiology (AREA)
- Biochemistry (AREA)
- Physics & Mathematics (AREA)
- Plant Pathology (AREA)
- Microbiology (AREA)
- Biophysics (AREA)
- Ophthalmology & Optometry (AREA)
- Mycology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- General Chemical & Material Sciences (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Peptides Or Proteins (AREA)
- Medicinal Preparation (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (4)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201562129638P | 2015-03-06 | 2015-03-06 | |
| US201562147307P | 2015-04-14 | 2015-04-14 | |
| PCT/US2016/021226 WO2016144892A1 (en) | 2015-03-06 | 2016-03-07 | Gene augmentation therapies for inherited retinal degeneration caused by mutations in the prpf31 gene |
| EP16762307.3A EP3265568B1 (en) | 2015-03-06 | 2016-03-07 | Gene augmentation therapies for inherited retinal degeneration caused by mutations in the prpf31 gene |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| SMT202000423T1 true SMT202000423T1 (it) | 2020-09-10 |
Family
ID=56879585
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| SM20200423T SMT202000423T1 (it) | 2015-03-06 | 2016-03-07 | Terapie di aumento genico per degenerazione retinica ereditaria causata da mutazioni del gene prpf31 |
Country Status (15)
| Country | Link |
|---|---|
| US (3) | US20180043034A1 (it) |
| EP (2) | EP3748007B1 (it) |
| JP (3) | JP6812368B2 (it) |
| CY (1) | CY1123158T1 (it) |
| DK (1) | DK3265568T3 (it) |
| ES (1) | ES2806054T3 (it) |
| HR (1) | HRP20201225T1 (it) |
| HU (1) | HUE051491T2 (it) |
| LT (1) | LT3265568T (it) |
| PL (1) | PL3265568T3 (it) |
| PT (1) | PT3265568T (it) |
| RS (1) | RS60668B1 (it) |
| SI (1) | SI3265568T1 (it) |
| SM (1) | SMT202000423T1 (it) |
| WO (1) | WO2016144892A1 (it) |
Families Citing this family (21)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US8663624B2 (en) | 2010-10-06 | 2014-03-04 | The Regents Of The University Of California | Adeno-associated virus virions with variant capsid and methods of use thereof |
| CN105755044A (zh) | 2011-04-22 | 2016-07-13 | 加利福尼亚大学董事会 | 具有变异衣壳的腺相关病毒病毒体及其使用方法 |
| EP3003391B1 (en) | 2013-05-31 | 2021-09-22 | The Regents of The University of California | Adeno-associated virus variants and methods of use thereof |
| EP3800191B1 (en) | 2014-03-17 | 2025-08-20 | Adverum Biotechnologies, Inc. | Compositions and methods for enhanced gene expression in cone cells |
| US11021519B2 (en) | 2015-03-02 | 2021-06-01 | Adverum Biotechnologies, Inc. | Compositions and methods for intravitreal delivery of polynucleotides to retinal cones |
| EP3748007B1 (en) * | 2015-03-06 | 2024-06-26 | Massachusetts Eye & Ear Infirmary | Gene augmentation therapies for inherited retinal degeneration caused by mutations in the prpf31 gene |
| JP6836999B2 (ja) | 2015-03-24 | 2021-03-03 | ザ リージェンツ オブ ザ ユニバーシティ オブ カリフォルニアＴｈｅ Ｒｅｇｅｎｔｓ Ｏｆ Ｔｈｅ Ｕｎｉｖｅｒｓｉｔｙ Ｏｆ Ｃａｌｉｆｏｒｎｉａ | アデノ随伴ウイルス変異体及びその使用方法 |
| AU2017302013B2 (en) | 2016-07-29 | 2022-05-26 | The Regents Of The University Of California | Adeno-associated virus virions with variant capsid and methods of use thereof |
| EP3510161A4 (en) | 2016-08-23 | 2020-04-22 | Akouos, Inc. | COMPOSITIONS AND METHODS FOR TREATING PERSONAL HEARING LOSS IN A PERSON |
| CA3040179A1 (en) | 2016-10-19 | 2018-04-26 | Adverum Biotechnologies, Inc. | Modified aav capsids and uses thereof |
| CA3061968A1 (en) | 2017-05-10 | 2018-11-15 | Massachusetts Eye And Ear Infirmary | Methods and compositions for modifying assembly-activating protein (aap)-dependence of viruses |
| CA3053154A1 (en) | 2017-06-30 | 2019-01-03 | The Regents Of The University Of California | Adeno-associated virus virions with variant capsids and methods of use thereof |
| JP2020534788A (ja) | 2017-08-28 | 2020-12-03 | ザ リージェンツ オブ ザ ユニバーシティ オブ カリフォルニア | アデノ随伴ウイルスカプシド変異体及びその使用方法 |
| CN112204145B (zh) * | 2018-06-01 | 2024-03-26 | 佛罗里达大学研究基金会有限公司 | 用于治疗显性视网膜色素变性的组合物和方法 |
| WO2020102740A2 (en) * | 2018-11-16 | 2020-05-22 | Spark Therapeutics, Inc. | Compositions and methods for increasing or enhancing transduction of gene therapy vectors and for removing or reducing immunoglobulins |
| US20220152278A1 (en) * | 2019-03-15 | 2022-05-19 | University Of Washington | Improved survival of human cells differentiated in vitro by prpf31 gene expression knockdown |
| KR20220157944A (ko) | 2020-02-21 | 2022-11-29 | 아카우오스, 인크. | 인간 대상체에서 비-연령-연관 청각 장애를 치료하기 위한 조성물 및 방법 |
| EP4117644A4 (en) * | 2020-03-11 | 2024-08-14 | Massachusetts Eye and Ear Infirmary | GENE THERAPY FOR NMNAT1-ASSOCIATED RETINAL DEGENERATION |
| JP7778400B2 (ja) * | 2021-06-16 | 2025-12-02 | 北京中因科技有限公司 | Ｐｒｐｆ３１変異体およびその使用 |
| JP2025534556A (ja) * | 2022-10-21 | 2025-10-16 | バイオジェン・エムエイ・インコーポレイテッド | 網膜色素変性症を治療するための組成物及び方法 |
| WO2024123461A1 (en) * | 2022-12-05 | 2024-06-13 | The United States Of America, As Represented By The Secretary, Department Of Health And Human Services | Pigment epithelium-derived factor peptides and use for treating retinal degeneration |
Family Cites Families (23)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| DE3023787A1 (de) | 1980-06-25 | 1982-01-21 | Studiengesellschaft Kohle mbH, 4330 Mülheim | Verfahren zur erhoehung der inkorporation und der expression von genetischem material in die kerne von intakten zellen mit hilfe von liposomen |
| US4980286A (en) | 1985-07-05 | 1990-12-25 | Whitehead Institute For Biomedical Research | In vivo introduction and expression of foreign genetic material in epithelial cells |
| IL79289A (en) | 1985-07-05 | 1992-01-15 | Whitehead Biomedical Inst | Introduction and expression of foreign genetic material into keratinocytes using a recombinant retrovirus |
| ATE117375T1 (de) | 1987-09-11 | 1995-02-15 | Whitehead Biomedical Inst | Transduktionsveränderte fibroblasten und ihre anwendung. |
| JP2914692B2 (ja) | 1987-12-11 | 1999-07-05 | ホワイトヘツド・インスチチユート・フオー・バイオメデイカル・リサーチ | 内皮細胞の遺伝子修飾 |
| WO1989007136A2 (en) | 1988-02-05 | 1989-08-10 | Whitehead Institute For Biomedical Research | Modified hepatocytes and uses therefor |
| EP0452457B1 (en) | 1989-11-03 | 1997-08-20 | Vanderbilt University | Method of in vivo delivery of functioning foreign genes |
| ES2096750T3 (es) | 1990-10-31 | 1997-03-16 | Somatix Therapy Corp | Vectores retroviricos utiles para la terapia genica. |
| ES2150832B1 (es) | 1996-06-12 | 2001-06-16 | Fichtel & Sachs Ag | Dispositivo de maniobra para la maniobra, en particular maniobra neumatica, de un embrague de friccion. |
| US6569662B1 (en) * | 2000-01-21 | 2003-05-27 | Hyseq, Inc. | Nucleic acids and polypeptides |
| WO2002082904A2 (en) * | 2001-04-13 | 2002-10-24 | The Trustees Of The University Of Pennsylvania | Method of treating or retarding the development of blindness |
| US20040208847A1 (en) * | 2003-03-28 | 2004-10-21 | Fabienne Rolling | Method and vectors for selectively transducing retinal pigment epithelium cells |
| US8211634B2 (en) * | 2006-02-14 | 2012-07-03 | Dana-Farber Cancer Institute, Inc. | Compositions, kits, and methods for identification, assessment, prevention, and therapy of cancer |
| EP2140004B1 (en) * | 2007-04-12 | 2022-01-12 | The Provost, Fellows, Foundation Scholars, & the other members of Board, of the College of the Holy & Undiv. Trinity of Queen Elizabeth near Dublin | Genetic suppression and replacement |
| WO2008137066A1 (en) * | 2007-05-02 | 2008-11-13 | The Board Of Regents Of The University Of Oklahoma | Use of compacted nucleic acid nanoparticles in non-viral treatments of ocular diseases |
| WO2009134681A2 (en) * | 2008-04-30 | 2009-11-05 | The Trustees Of The University Of Pennsylvania | Aav7 viral vectors for targeted delivery of rpe cells |
| WO2010005533A2 (en) * | 2008-06-30 | 2010-01-14 | The Johns Hopkins University | Compositions and methods for the treatment of ocular oxidative stress and retinitis pigmentosa |
| GB201103062D0 (en) * | 2011-02-22 | 2011-04-06 | Isis Innovation | Method |
| TWI698240B (zh) * | 2012-05-15 | 2020-07-11 | 澳大利亞商艾佛蘭屈澳洲私營有限公司 | 使用腺相關病毒(aav)sflt-1治療老年性黃斑部退化(amd) |
| EP2872183B1 (en) * | 2012-07-11 | 2018-09-26 | The Trustees Of The University Of Pennsylvania | Aav-mediated gene therapy for rpgr x-linked retinal degeneration |
| 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 |
| WO2015189429A1 (en) * | 2014-06-13 | 2015-12-17 | Universidade De Santiago De Compostela | Nanoparticulate systems for use in gene transfer or gene delivery |
| EP3748007B1 (en) | 2015-03-06 | 2024-06-26 | Massachusetts Eye & Ear Infirmary | Gene augmentation therapies for inherited retinal degeneration caused by mutations in the prpf31 gene |
-
2016
- 2016-03-07 EP EP20171646.1A patent/EP3748007B1/en active Active
- 2016-03-07 SI SI201630873T patent/SI3265568T1/sl unknown
- 2016-03-07 LT LTEP16762307.3T patent/LT3265568T/lt unknown
- 2016-03-07 SM SM20200423T patent/SMT202000423T1/it unknown
- 2016-03-07 HU HUE16762307A patent/HUE051491T2/hu unknown
- 2016-03-07 ES ES16762307T patent/ES2806054T3/es active Active
- 2016-03-07 RS RS20200945A patent/RS60668B1/sr unknown
- 2016-03-07 JP JP2017564778A patent/JP6812368B2/ja active Active
- 2016-03-07 DK DK16762307.3T patent/DK3265568T3/da active
- 2016-03-07 US US15/555,915 patent/US20180043034A1/en not_active Abandoned
- 2016-03-07 HR HRP20201225TT patent/HRP20201225T1/hr unknown
- 2016-03-07 EP EP16762307.3A patent/EP3265568B1/en active Active
- 2016-03-07 WO PCT/US2016/021226 patent/WO2016144892A1/en not_active Ceased
- 2016-03-07 PT PT167623073T patent/PT3265568T/pt unknown
- 2016-03-07 PL PL16762307T patent/PL3265568T3/pl unknown
-
2020
- 2020-08-04 CY CY20201100718T patent/CY1123158T1/el unknown
- 2020-08-13 US US16/992,689 patent/US20210069347A1/en not_active Abandoned
- 2020-12-16 JP JP2020208068A patent/JP7239550B2/ja active Active
-
2023
- 2023-03-02 JP JP2023031931A patent/JP2023071867A/ja active Pending
-
2024
- 2024-10-25 US US18/927,466 patent/US20250195691A1/en active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| SI3265568T1 (sl) | 2020-10-30 |
| EP3265568A1 (en) | 2018-01-10 |
| LT3265568T (lt) | 2020-08-25 |
| JP2021059561A (ja) | 2021-04-15 |
| JP2023071867A (ja) | 2023-05-23 |
| HUE051491T2 (hu) | 2021-03-01 |
| EP3748007A1 (en) | 2020-12-09 |
| RS60668B1 (sr) | 2020-09-30 |
| JP2018511652A (ja) | 2018-04-26 |
| WO2016144892A1 (en) | 2016-09-15 |
| HK1247637A1 (en) | 2018-09-28 |
| HRP20201225T1 (hr) | 2020-11-13 |
| EP3265568B1 (en) | 2020-05-06 |
| ES2806054T3 (es) | 2021-02-16 |
| DK3265568T3 (da) | 2020-08-10 |
| PT3265568T (pt) | 2020-08-20 |
| EP3748007B1 (en) | 2024-06-26 |
| JP7239550B2 (ja) | 2023-03-14 |
| JP6812368B2 (ja) | 2021-01-13 |
| CY1123158T1 (el) | 2021-10-29 |
| US20210069347A1 (en) | 2021-03-11 |
| EP3265568A4 (en) | 2018-08-08 |
| US20250195691A1 (en) | 2025-06-19 |
| PL3265568T3 (pl) | 2020-11-30 |
| EP3748007C0 (en) | 2024-06-26 |
| US20180043034A1 (en) | 2018-02-15 |
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