HRP20231296T1 - Genska terapija posredovana s avv koja obnavlja gen za otoferlin - Google Patents
Genska terapija posredovana s avv koja obnavlja gen za otoferlin Download PDFInfo
- Publication number
- HRP20231296T1 HRP20231296T1 HRP20231296TT HRP20231296T HRP20231296T1 HR P20231296 T1 HRP20231296 T1 HR P20231296T1 HR P20231296T T HRP20231296T T HR P20231296TT HR P20231296 T HRP20231296 T HR P20231296T HR P20231296 T1 HRP20231296 T1 HR P20231296T1
- Authority
- HR
- Croatia
- Prior art keywords
- otoferlin
- use according
- vector system
- terminal part
- seq
- Prior art date
Links
- 108050006335 Otoferlin Proteins 0.000 title claims 16
- 238000001415 gene therapy Methods 0.000 title 1
- 230000001404 mediated effect Effects 0.000 title 1
- 102100034198 Otoferlin Human genes 0.000 claims 13
- 108091033319 polynucleotide Proteins 0.000 claims 10
- 102000040430 polynucleotide Human genes 0.000 claims 10
- 239000002157 polynucleotide Substances 0.000 claims 10
- 229920001184 polypeptide Polymers 0.000 claims 8
- 102000004196 processed proteins & peptides Human genes 0.000 claims 8
- 108090000765 processed proteins & peptides Proteins 0.000 claims 8
- 206010011878 Deafness Diseases 0.000 claims 7
- 201000006093 autosomal recessive nonsyndromic deafness 9 Diseases 0.000 claims 7
- 208000032337 autosomal recessive nonsyndromic hearing loss 9 Diseases 0.000 claims 7
- 231100000895 deafness Toxicity 0.000 claims 7
- 208000016354 hearing loss disease Diseases 0.000 claims 7
- 239000002245 particle Substances 0.000 claims 7
- 241000702421 Dependoparvovirus Species 0.000 claims 6
- 239000012634 fragment Substances 0.000 claims 6
- 108091026890 Coding region Proteins 0.000 claims 5
- 210000004899 c-terminal region Anatomy 0.000 claims 5
- 101001134169 Homo sapiens Otoferlin Proteins 0.000 claims 4
- 125000000539 amino acid group Chemical group 0.000 claims 4
- 230000035772 mutation Effects 0.000 claims 4
- 239000000825 pharmaceutical preparation Substances 0.000 claims 4
- 241000702423 Adeno-associated virus - 2 Species 0.000 claims 3
- COLNVLDHVKWLRT-QMMMGPOBSA-N L-phenylalanine Chemical compound OC(=O)[C@@H](N)CC1=CC=CC=C1 COLNVLDHVKWLRT-QMMMGPOBSA-N 0.000 claims 2
- OUYCCCASQSFEME-QMMMGPOBSA-N L-tyrosine Chemical compound OC(=O)[C@@H](N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-QMMMGPOBSA-N 0.000 claims 2
- 210000000234 capsid Anatomy 0.000 claims 2
- COLNVLDHVKWLRT-UHFFFAOYSA-N phenylalanine Natural products OC(=O)C(N)CC1=CC=CC=C1 COLNVLDHVKWLRT-UHFFFAOYSA-N 0.000 claims 2
- 102220024085 rs397515607 Human genes 0.000 claims 2
- OUYCCCASQSFEME-UHFFFAOYSA-N tyrosine Natural products OC(=O)C(N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-UHFFFAOYSA-N 0.000 claims 2
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 claims 1
- 210000000067 inner hair cell Anatomy 0.000 claims 1
- 230000008488 polyadenylation Effects 0.000 claims 1
- 108090000623 proteins and genes Proteins 0.000 claims 1
Classifications
-
- 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
- A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- A61K38/177—Receptors; Cell surface antigens; Cell surface determinants
-
- 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
-
- 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
-
- 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
- A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
- A01K67/027—New or modified breeds of vertebrates
- A01K67/0275—Genetically modified vertebrates, e.g. transgenic
-
- 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
- A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
- A01K67/027—New or modified breeds of vertebrates
- A01K67/0275—Genetically modified vertebrates, e.g. transgenic
- A01K67/0276—Knock-out vertebrates
-
- 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
- A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- A61K38/1703—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- A61K38/1709—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
-
- 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
-
- 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
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P27/00—Drugs for disorders of the senses
- A61P27/16—Otologicals
-
- 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
-
- 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
- A01K2217/00—Genetically modified animals
- A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
- A01K2217/054—Animals comprising random inserted nucleic acids (transgenic) inducing loss of function
- A01K2217/056—Animals comprising random inserted nucleic acids (transgenic) inducing loss of function due to mutation of coding region of the transgene (dominant negative)
-
- 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
- A01K2217/00—Genetically modified animals
- A01K2217/07—Animals genetically altered by homologous recombination
- A01K2217/075—Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
-
- 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
- A01K2217/00—Genetically modified animals
- A01K2217/20—Animal model comprising regulated expression system
-
- 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
- C12N2750/14132—Use of virus as therapeutic agent, other than vaccine, e.g. as cytolytic agent
-
- 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
- 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
- C12N2750/14144—Chimeric viral vector comprising heterologous viral elements for production of another viral 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
- 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
- C12N2750/14171—Demonstrated in vivo effect
Landscapes
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Animal Behavior & Ethology (AREA)
- Veterinary Medicine (AREA)
- Zoology (AREA)
- Medicinal Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Organic Chemistry (AREA)
- Pharmacology & Pharmacy (AREA)
- Public Health (AREA)
- Biotechnology (AREA)
- Molecular Biology (AREA)
- Epidemiology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Gastroenterology & Hepatology (AREA)
- Environmental Sciences (AREA)
- Biomedical Technology (AREA)
- General Engineering & Computer Science (AREA)
- Wood Science & Technology (AREA)
- Biophysics (AREA)
- Biochemistry (AREA)
- Immunology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Biodiversity & Conservation Biology (AREA)
- Animal Husbandry (AREA)
- Plant Pathology (AREA)
- Microbiology (AREA)
- Physics & Mathematics (AREA)
- Virology (AREA)
- Toxicology (AREA)
- Cell Biology (AREA)
- Marine Sciences & Fisheries (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
Claims (15)
1. Sustav vektora koji sadrži najmanje dvije AAV čestice, svaka od njih sadrži polinukleotid koji sadrži parcijanu kodirajuću sekvenciju koja kodira i) N-terminalni dio polipeptida otoferlina ili njegov funkcionalni fragment, za prvo, te ii) C-terminalni dio polipeptida otoferlina ili njegov funkcionalni fragment, za drugo, a spomenuti sustav vektora dozvoljava ekspresiju cijele duljine polipeptida otoferlina ili njegovog funkcionalnog fragmenta u unutrašnjim stanicama dlake, a za upotrebu u liječenju pacijenata koji pate od DFNB9 gluhoće ili za sprječavanje DFNB9 gluhoće kod pacijenata koji imaju mutacije DFNB9, s tim da pacijent jest čovjek koji ima razvijen i zreli slušni sustav.
2. Sustav vektora za upotrebu prema patentnom zahtjevu 1, naznačen time da spomenuti polipeptid otoferlin ima sekvenciju SEQ ID NO: 1.
3. Sustav vektora za upotrebu prema patentnom zahtjevu 1, naznačen time da spomenuti polipeptid otoferlin ima sekvenciju SEQ ID NO: 5.
4. Sustav vektora za upotrebu prema bilo kojem od patentnih zahtjeva 1 do 3, naznačen time da spomenuti ljudski pacijenti jesu novorođene bebe, dojenčad, djeca, tinejdžeri ili odrasli.
5. Sustav vektora za upotrebu prema bilo kojem od patentnih zahtjeva 1 do 4, naznačen time da sadrži najmanje dvije AAV čestice, a svaka od spomenutih AAV čestica sadrži:
a) za prvo, prvi polinukleotid koji sadrži invertirano terminalno ponavljanje na svakom kraju spomenutog polinukleotida, te između spomenutih invertiranih terminalnih ponavljanja, od 5' do 3': pogodni promotor nakon kojeg slijedi parcijalna kodirajuća sekvencija koja sadrži N-terminalni dio gena za otoferlin te donorsko mjesto kod prekrajanja (engl. splice site), te
b) za drugo, drugi polinukleotid koji sadrži invertirano terminalno ponavljanje na svakom kraju spomenutog polinukleotida, te između spomenutih invertiranih terminalnih ponavljanja, od 5' do 3': akceporsko mjesto kod prekrajanja te parcijalnu kodirajuću sekvenciju koja sadrži C-terminalni dio gena za otoferlin, nakon koje može slijediti poliadenilacijska sekvencija, pri čemu spomenuti prvi i drugi polinukleotidi također sadrže rekombinogensku sekvenciju koja je smještena nakon donorskog mjesta kod prekrajanja u spomenutom prvom polinukleotidu i prije akceptorskog mjesta kod prekrajanja u spomenutom drugom polinukleotidu, pri čemu kodirajuća sekvencija u prvom i drugom polinukleotidu, kad se kombiniraju, kodiraju polipeptid otoferlin pune duljine ili njegov funkcionalni fragment.
6. Sustav vektora za upotrebu prema patentnom zahtjevu 5, naznačen time da spomenuti gen za otoferlin ima sekvenciju SEQ ID NO: 2 ili SEQ ID NO: 22.
7. Sustav vektora za upotrebu prema patentnom zahtjevu 5, naznačen time da spomenuti N-terminalni dio gena za otoferlin ima sekvenciju SEQ ID NO: 3, a spomenuti C-terminalni dio gena za otoferlin ima SEQ ID NO: 23 ili SEQ ID NO: 4.
8. Sustav vektora za upotrebu prema bilo kojem od patentnih zahtjeva 1 - 7, naznačen time da spomenute čestice AAV jesu serotip AAV2.
9. Sustav vektora za upotrebu prema bilo kojem od patentnih zahtjeva 1 - 8, naznačen time da sadrži čestice AAV2 u kojima je kapsid modificiran suptitucijom aminokiselinskog ostatka tirozina u aminokiselinski ostatak fenilalanina.
10. Sustav vektora za upotrebu prema bilo kojem od patentnih zahtjeva 1 - 9, naznačen time da je spomenutim ljudskim pacijentima dijagnosticirana DFNB9 gluhoća nakon što su naučili govoriti.
11. Sustav vektora za upotrebu prema bilo kojem od patentnih zahtjeva 1 - 10, naznačen time da spomenuti pacijenti jesu tinejdžeri ili odrasli koji pate od DFNB9 gluhoće inducirane termosenzitivnim mutacijama, preferirano odabranih od: P.Q994VfsX6, P.I515T, p.G541S, PR1607W, p.E1804del.
12. Farmaceutski pripravak sadrži najmanje dvije AAV čestice, a svaka od njih sadrži polinukleotid koji sadrži parcijanu kodirajuću sekvenciju koja kodira i) N-terminalni dio polipeptida otoferlina ili njegov funkcionalni fragment, za prvi, te ii) C-terminalni dio polipeptida otoferlina ili njegov funkcionalni fragment, za drugi, kao i farmaceutski prihvatljiv vezikul, a za upotrebu u liječenju pacijenata koji pate od DFNB9 gluhoće ili za sprječavanje DFNB9 gluhoće kod pacijenata koji imaju mutacije DFNB9, gdje spomenuti pacijent jest čovjek koji ima razvijen i zreli slušni sustav kao što su novorođene bebe, dojenčad, djeca, tinejdžeri ili odrasli.
13. Farmaceutski pripravak za upotrebu prema patentnom zahtjevu 12, naznačen time da spomenuti N-terminalni dio gena za otoferlin ima SEQ ID NO: 3 te spomenuti C-terminalni dio gena za otoferlin ima SEQ ID NO: 4 ili SEQ ID NO: 23.
14. Farmaceutski pripravak za upotrebu prema patentnom zahtjevu 12 ili 13, naznačen time da spomenute AAV čestice jesu serotip AAV2, preferirano u kojima je kapsid modificiran suptitucijom aminokiselinskog ostatka tirozina u aminokiselinski ostatak fenilalanina.
15. Farmaceutski pripravak za upotrebu pema patentnom zahtjevu 12, 13 ili 14, naznačen time da spomenuti pacijenti jesu tinejdžeri ili odrasli koji pate od DFNB9 gluhoće inducirane termosenzitivnim mutacijama, preferirano odabranih od: P.Q994VfsX6, P.I515T, p.G541S, PR1607W, p.E1804del.
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| EP19305071 | 2019-01-18 | ||
| PCT/EP2020/051283 WO2020148458A1 (en) | 2019-01-18 | 2020-01-20 | Aav-mediated gene therapy restoring the otoferlin gene |
| EP20701951.4A EP3911354B8 (en) | 2019-01-18 | 2020-01-20 | Aav-mediated gene therapy restoring the otoferlin gene |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HRP20231296T1 true HRP20231296T1 (hr) | 2024-02-16 |
Family
ID=65351986
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HRP20231296TT HRP20231296T1 (hr) | 2019-01-18 | 2020-01-20 | Genska terapija posredovana s avv koja obnavlja gen za otoferlin |
Country Status (21)
| Country | Link |
|---|---|
| US (1) | US20220125875A1 (hr) |
| EP (2) | EP4295913A3 (hr) |
| JP (1) | JP2022522996A (hr) |
| KR (1) | KR20210118112A (hr) |
| CN (1) | CN113924109A (hr) |
| AU (1) | AU2020208933A1 (hr) |
| BR (1) | BR112021013996A2 (hr) |
| CA (1) | CA3126884A1 (hr) |
| DK (1) | DK3911354T3 (hr) |
| ES (1) | ES2960880T3 (hr) |
| FI (1) | FI3911354T3 (hr) |
| HR (1) | HRP20231296T1 (hr) |
| HU (1) | HUE063458T2 (hr) |
| IL (1) | IL284742B2 (hr) |
| LT (1) | LT3911354T (hr) |
| MX (1) | MX2021008622A (hr) |
| PL (1) | PL3911354T3 (hr) |
| PT (1) | PT3911354T (hr) |
| RS (1) | RS64794B1 (hr) |
| SI (1) | SI3911354T1 (hr) |
| WO (1) | WO2020148458A1 (hr) |
Families Citing this family (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US11660353B2 (en) | 2018-04-27 | 2023-05-30 | Decibel Therapeutics, Inc. | Compositions and methods for treating sensorineural hearing loss using otoferlin dual vector systems |
| JP2023515072A (ja) | 2020-02-21 | 2023-04-12 | アコーオス インコーポレイテッド | ヒト対象において非加齢関連聴力障害を処置するための組成物および方法 |
| JP2024507837A (ja) * | 2021-02-19 | 2024-02-21 | デシベル セラピューティクス インコーポレイテッド | オトフェリン二重ベクター系を使用して、感音難聴を治療するための組成物 |
| CA3231374A1 (en) * | 2021-09-10 | 2023-03-16 | Saaid SAFIEDDINE | Dual recombinant aav8 vector system encoding isoform 5 of otoferlin and uses thereof |
| CN117106824A (zh) * | 2022-05-17 | 2023-11-24 | 复旦大学附属眼耳鼻喉科医院 | 一种治疗听力损伤的双载体系统及其应用 |
| CN116925239A (zh) * | 2023-07-17 | 2023-10-24 | 苏州星奥拓维生物技术有限公司 | 双载体系统表达Otof基因的组合物和方法 |
Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2003059396A1 (en) | 2002-01-11 | 2003-07-24 | Sergei Zolotukhin | Adiponectin gene therapy |
| WO2006036465A2 (en) | 2004-09-03 | 2006-04-06 | University Of Florida | Compositions and methods for treating cystic fibrosis |
| US8298818B2 (en) | 2006-04-28 | 2012-10-30 | University Of Florida Research Foundation, Inc. | Self-complementary adeno-associated virus having a truncated CMV-chicken β-actin promoter |
| WO2011075838A1 (en) | 2009-12-21 | 2011-06-30 | Audigen Inc. | Method of treating or preventing hearing loss |
| WO2013075008A1 (en) | 2011-11-16 | 2013-05-23 | University Of Florida Research Foundation Inc. | Aav dual vector systems for gene therapy |
| KR102298579B1 (ko) * | 2013-05-21 | 2021-09-07 | 유니버시티 오브 플로리다 리서치 파운데이션, 인코포레이티드 | 캡시드-변형된 raav3 벡터 조성물, 및 인간 간암의 유전자 요법에서의 용도 |
| CN116236591A (zh) | 2015-12-11 | 2023-06-09 | 马萨诸塞眼科耳科诊所 | 用于将核酸递送至耳蜗和前庭细胞的材料和方法 |
| CN110225975A (zh) | 2016-08-23 | 2019-09-10 | 阿库斯股份有限公司 | 用于治疗人受试者中非年龄相关的听力损害的组合物和方法 |
| MX2019013151A (es) | 2017-05-05 | 2020-02-05 | Univ Florida | Composiciones y metodos para expresar otoferlina. |
| US11660353B2 (en) * | 2018-04-27 | 2023-05-30 | Decibel Therapeutics, Inc. | Compositions and methods for treating sensorineural hearing loss using otoferlin dual vector systems |
-
2020
- 2020-01-20 EP EP23184106.5A patent/EP4295913A3/en active Pending
- 2020-01-20 AU AU2020208933A patent/AU2020208933A1/en active Pending
- 2020-01-20 WO PCT/EP2020/051283 patent/WO2020148458A1/en active Application Filing
- 2020-01-20 DK DK20701951.4T patent/DK3911354T3/da active
- 2020-01-20 CA CA3126884A patent/CA3126884A1/en active Pending
- 2020-01-20 BR BR112021013996-6A patent/BR112021013996A2/pt unknown
- 2020-01-20 JP JP2021541524A patent/JP2022522996A/ja active Pending
- 2020-01-20 FI FIEP20701951.4T patent/FI3911354T3/fi active
- 2020-01-20 KR KR1020217026056A patent/KR20210118112A/ko active Search and Examination
- 2020-01-20 EP EP20701951.4A patent/EP3911354B8/en active Active
- 2020-01-20 HU HUE20701951A patent/HUE063458T2/hu unknown
- 2020-01-20 IL IL284742A patent/IL284742B2/en unknown
- 2020-01-20 PT PT207019514T patent/PT3911354T/pt unknown
- 2020-01-20 LT LTEPPCT/EP2020/051283T patent/LT3911354T/lt unknown
- 2020-01-20 RS RS20230958A patent/RS64794B1/sr unknown
- 2020-01-20 SI SI202030290T patent/SI3911354T1/sl unknown
- 2020-01-20 ES ES20701951T patent/ES2960880T3/es active Active
- 2020-01-20 MX MX2021008622A patent/MX2021008622A/es unknown
- 2020-01-20 CN CN202080022300.3A patent/CN113924109A/zh active Pending
- 2020-01-20 PL PL20701951.4T patent/PL3911354T3/pl unknown
- 2020-01-20 HR HRP20231296TT patent/HRP20231296T1/hr unknown
-
2021
- 2021-01-20 US US17/422,737 patent/US20220125875A1/en active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| MX2021008622A (es) | 2021-12-15 |
| BR112021013996A2 (pt) | 2021-10-26 |
| JP2022522996A (ja) | 2022-04-21 |
| EP3911354B1 (en) | 2023-07-19 |
| CN113924109A (zh) | 2022-01-11 |
| CA3126884A1 (en) | 2020-07-23 |
| ES2960880T3 (es) | 2024-03-07 |
| RS64794B1 (sr) | 2023-11-30 |
| AU2020208933A1 (en) | 2021-07-29 |
| IL284742B2 (en) | 2024-06-01 |
| KR20210118112A (ko) | 2021-09-29 |
| IL284742B1 (en) | 2024-02-01 |
| HUE063458T2 (hu) | 2024-01-28 |
| EP4295913A3 (en) | 2024-03-06 |
| IL284742A (en) | 2021-08-31 |
| FI3911354T3 (fi) | 2023-10-17 |
| EP3911354B8 (en) | 2024-04-03 |
| LT3911354T (lt) | 2023-11-27 |
| US20220125875A1 (en) | 2022-04-28 |
| PL3911354T3 (pl) | 2024-03-11 |
| EP4295913A2 (en) | 2023-12-27 |
| DK3911354T3 (da) | 2023-10-16 |
| EP3911354A1 (en) | 2021-11-24 |
| SI3911354T1 (sl) | 2023-12-29 |
| WO2020148458A1 (en) | 2020-07-23 |
| AU2020208933A8 (en) | 2021-08-26 |
| PT3911354T (pt) | 2023-10-24 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| HRP20231296T1 (hr) | Genska terapija posredovana s avv koja obnavlja gen za otoferlin | |
| USRE47471E1 (en) | Heat-stable respiratory syncytial virus F protein oligomers and their use in immunological compositions | |
| US10227385B2 (en) | Chimeric poly peptides and the therapeutic use thereof against a flaviviridae infection | |
| CN110269932A (zh) | 非洲猪瘟病毒疫苗及其用途 | |
| BR9815551A (pt) | Vacina de envoltório dimérica recombinante contra infecção flaviviral | |
| NO177678C (no) | Fremgangsmåte for fremstilling av et terapeutisk aktivt, rekombinant protein som har ASP-aktivitet, ekspresjonssystem samt DNA som koder for nevnte protein | |
| CA2529179A1 (en) | Recombinant adeno-associated virus vector for treatment of alzheimer disease | |
| ES2640961T3 (es) | Virus de la estomatitis vesicular para vacunas de sensibilización y refuerzo | |
| CN109843323A (zh) | 用于黄病毒疫苗接种的组合物和方法 | |
| JP2023526073A (ja) | 合成改変ワクシニアアンカラ（ｓＭＶＡ）ベースのコロナウイルスワクチン | |
| CN102883740A (zh) | 用于使hiv失活并阻断hiv的双功能分子 | |
| US20230414745A1 (en) | Influenza virus encoding a truncated ns1 protein and a sars-cov receptor binding domain | |
| CN105143251B (zh) | 流感核蛋白疫苗 | |
| CO2022017224A2 (es) | Composiciones útiles para el tratamiento de la enfermedad de pompe | |
| ES2969044T3 (es) | Una vacuna para proteger contra Streptococcus suis | |
| PT1219301E (pt) | Vacinas contendo polipéptidos híbridos, consistindo em, pelo menos, duas proteínas alergénicas diferentes | |
| CN102333539A (zh) | 重组禽传染性鼻炎疫苗及其制备方法 | |
| JP2020536925A5 (hr) | ||
| JPWO2020148458A5 (hr) | ||
| Arce-Estrada et al. | Neutralization of venom-induced hemorrhage by equine antibodies raised by immunization with a plasmid encoding a novel P-II metalloproteinase from the lancehead pitviper Bothrops asper | |
| WO2021229311A1 (es) | Vacuna recombinante contra covid-19 en vector viral de paramixovirus | |
| Dërmaku-Sopjani et al. | Interactions between ACE2 and SARS-CoV-2 S protein: Peptide inhibitors for potential drug developments against COVID-19 | |
| WO2019216394A1 (ja) | ダニアレルギー治療のための核酸 | |
| WO2024061188A1 (zh) | 一种冠状病毒多价疫苗及其应用 | |
| CN110075290A (zh) | 流感黏膜疫苗组合物及其制备方法与应用 |