BR112023000578A2 - Composições úteis para tratamento de doença de charcot-marie-tooth - Google Patents
Composições úteis para tratamento de doença de charcot-marie-toothInfo
- Publication number
- BR112023000578A2 BR112023000578A2 BR112023000578A BR112023000578A BR112023000578A2 BR 112023000578 A2 BR112023000578 A2 BR 112023000578A2 BR 112023000578 A BR112023000578 A BR 112023000578A BR 112023000578 A BR112023000578 A BR 112023000578A BR 112023000578 A2 BR112023000578 A2 BR 112023000578A2
- Authority
- BR
- Brazil
- Prior art keywords
- coding sequence
- mirna
- human
- mitofusin
- patient
- Prior art date
Links
- 239000000203 mixture Substances 0.000 title abstract 5
- 208000010693 Charcot-Marie-Tooth Disease Diseases 0.000 title abstract 2
- 108091026890 Coding region Proteins 0.000 abstract 5
- 101001018717 Homo sapiens Mitofusin-2 Proteins 0.000 abstract 4
- 102000057083 human MFN2 Human genes 0.000 abstract 4
- 108091070501 miRNA Proteins 0.000 abstract 4
- 239000002679 microRNA Substances 0.000 abstract 4
- 201000008990 Charcot-Marie-Tooth disease type 2A1 Diseases 0.000 abstract 2
- 208000035758 Charcot-Marie-Tooth disease type 2S Diseases 0.000 abstract 2
- 108091028043 Nucleic acid sequence Proteins 0.000 abstract 2
- HISOCSRUFLPKDE-KLXQUTNESA-N cmt-2 Chemical compound C1=CC=C2[C@](O)(C)C3CC4C(N(C)C)C(O)=C(C#N)C(=O)[C@@]4(O)C(O)=C3C(=O)C2=C1O HISOCSRUFLPKDE-KLXQUTNESA-N 0.000 abstract 2
- 150000007523 nucleic acids Chemical group 0.000 abstract 2
- 230000001105 regulatory effect Effects 0.000 abstract 2
- 239000013598 vector Substances 0.000 abstract 2
Classifications
-
- 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
-
- 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
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
-
- 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
- C12N15/1137—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 against enzymes
-
- 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
- C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
- C12N9/14—Hydrolases (3)
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Y—ENZYMES
- C12Y306/00—Hydrolases acting on acid anhydrides (3.6)
- C12Y306/05—Hydrolases acting on acid anhydrides (3.6) acting on GTP; involved in cellular and subcellular movement (3.6.5)
-
- 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
- C12N2310/14—Type of nucleic acid interfering nucleic acids [NA]
- C12N2310/141—MicroRNAs, miRNAs
-
- 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)
- Engineering & Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- Organic Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biomedical Technology (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- General Engineering & Computer Science (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Medicinal Chemistry (AREA)
- Biophysics (AREA)
- Plant Pathology (AREA)
- Physics & Mathematics (AREA)
- Virology (AREA)
- Veterinary Medicine (AREA)
- Pharmacology & Pharmacy (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Neurology (AREA)
- Neurosurgery (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Epidemiology (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Toxicology (AREA)
- Gastroenterology & Hepatology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US202063051336P | 2020-07-13 | 2020-07-13 | |
| US202163173045P | 2021-04-09 | 2021-04-09 | |
| PCT/US2021/041406 WO2022015715A1 (en) | 2020-07-13 | 2021-07-13 | Compositions useful for treatment of charcot-marie-tooth disease |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| BR112023000578A2 true BR112023000578A2 (pt) | 2023-05-09 |
Family
ID=77317406
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| BR112023000578A BR112023000578A2 (pt) | 2020-07-13 | 2021-07-13 | Composições úteis para tratamento de doença de charcot-marie-tooth |
Country Status (14)
| Country | Link |
|---|---|
| US (1) | US20230270884A1 (https=) |
| EP (1) | EP4179097A1 (https=) |
| JP (1) | JP2023534037A (https=) |
| KR (1) | KR20230038503A (https=) |
| CN (1) | CN116438311A (https=) |
| AU (1) | AU2021309645A1 (https=) |
| BR (1) | BR112023000578A2 (https=) |
| CA (1) | CA3185281A1 (https=) |
| CO (1) | CO2023001500A2 (https=) |
| IL (1) | IL299762A (https=) |
| MX (1) | MX2023000658A (https=) |
| TW (1) | TW202216244A (https=) |
| WO (1) | WO2022015715A1 (https=) |
| ZA (1) | ZA202300505B (https=) |
Families Citing this family (8)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB201907882D0 (en) | 2019-06-03 | 2019-07-17 | Cyprus Foundation For Muscular Dystrophy Res | Methods |
| WO2023049846A1 (en) * | 2021-09-24 | 2023-03-30 | The Trustees Of The University Of Pennsylvania | Compositions useful for treatment of charcot-marie-tooth disease |
| WO2024130070A2 (en) | 2022-12-17 | 2024-06-20 | The Trustees Of The University Of Pennsylvania | Recombinant aav capsids with cardiac- and skeletal muscle- specific targeting motifs and uses thereof |
| KR20250135916A (ko) | 2022-12-17 | 2025-09-15 | 더 트러스티스 오브 더 유니버시티 오브 펜실베니아 | 심장 및 골격근 특이적 표적화 모티프를 갖는 재조합 aav 돌연변이체 벡터 및 이를 포함하는 조성물 |
| WO2024155966A1 (en) * | 2023-01-20 | 2024-07-25 | Loma Linda University Health | Methods and compositions for treatment of niemann-pick disease type c and charcot-marie-tooth disease |
| EP4731642A1 (en) | 2023-06-21 | 2026-04-29 | Fundació Institut de Recerca Biomèdica (IRB Barcelona) | Variants of mfn2 and their use in the treatment/prevention of diseases associated with alterations in endoplasmatic reticulum function |
| AR133098A1 (es) | 2023-06-29 | 2025-08-27 | Univ Pennsylvania | Aav mutante con motivos dirigidos al sistema nervioso central y composiciones que lo contienen |
| WO2025106661A1 (en) | 2023-11-14 | 2025-05-22 | The Trustees Of The University Of Pennsylvania | Compositions with cardiac and skeletal musclespecific targeting motifs and uses thereof |
Family Cites Families (25)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| NZ532635A (en) | 2001-11-13 | 2007-05-31 | Univ Pennsylvania | A method of identifying unknown adeno-associated virus (AAV) sequences and a kit for the method |
| DK2359869T3 (en) | 2001-12-17 | 2019-04-15 | Univ Pennsylvania | Sequences of adeno-associated virus (AAV) serotype 8, vectors containing these, and uses thereof |
| CN1856576B (zh) | 2003-09-30 | 2011-05-04 | 宾夕法尼亚州立大学托管会 | 腺伴随病毒(aav)进化支、序列、含有这些序列的载体及它们的应用 |
| WO2006110689A2 (en) | 2005-04-07 | 2006-10-19 | The Trustees Of The University Of Pennsylvania | Method of increasing the function of an aav vector |
| US7588772B2 (en) | 2006-03-30 | 2009-09-15 | Board Of Trustees Of The Leland Stamford Junior University | AAV capsid library and AAV capsid proteins |
| ES2646630T3 (es) | 2008-11-07 | 2017-12-14 | Massachusetts Institute Of Technology | Lipidoides aminoalcohólicos y usos de los mismos |
| US20130023033A1 (en) | 2010-03-29 | 2013-01-24 | The Trustees Of The University Of Pennsylvania | Pharmacologically induced transgene ablation system |
| EP2558074B1 (en) | 2010-04-08 | 2018-06-06 | The Trustees of Princeton University | Preparation of lipid nanoparticles |
| WO2012075040A2 (en) | 2010-11-30 | 2012-06-07 | Shire Human Genetic Therapies, Inc. | mRNA FOR USE IN TREATMENT OF HUMAN GENETIC DISEASES |
| PL3586861T3 (pl) | 2011-06-08 | 2022-05-23 | Translate Bio, Inc. | Kompozycje nanocząstek lipidowych i sposoby dostarczania mrna |
| FR2977562B1 (fr) | 2011-07-06 | 2016-12-23 | Gaztransport Et Technigaz | Cuve etanche et thermiquement isolante integree dans une structure porteuse |
| EA037448B1 (ru) | 2012-06-08 | 2021-03-30 | Этрис Гмбх | Способ доставки в легкие терапевтической мрнк с pei и фармацевтическая композиция |
| EP4331620A3 (en) | 2012-12-07 | 2024-12-04 | Translate Bio, Inc. | Lipidic nanoparticles for mrna delivery |
| US9593077B2 (en) | 2013-11-18 | 2017-03-14 | Arcturus Therapeutics, Inc. | Ionizable cationic lipid for RNA delivery |
| US11015173B2 (en) | 2015-12-11 | 2021-05-25 | The Trustees Of The University Of Pennsylvania | Scalable purification method for AAV1 |
| EP3387138B1 (en) | 2015-12-11 | 2022-01-26 | The Trustees Of The University Of Pennsylvania | Scalable purification method for aav9 |
| WO2017100676A1 (en) | 2015-12-11 | 2017-06-15 | The Trustees Of The University Of Pennsylvania | Scalable purification method for aav8 |
| US11028372B2 (en) | 2015-12-11 | 2021-06-08 | The Trustees Of The University Of Pennsylvania | Scalable purification method for AAVRH10 |
| JP7455579B2 (ja) | 2017-02-28 | 2024-03-26 | ザ・トラステイーズ・オブ・ザ・ユニバーシテイ・オブ・ペンシルベニア | 新規アデノ随伴ウイルス（ａａｖ）クレードｆベクター及びその用途 |
| WO2018168961A1 (ja) | 2017-03-16 | 2018-09-20 | 株式会社デンソー | 自己位置推定装置 |
| MX2020008932A (es) | 2018-02-27 | 2020-10-01 | Univ Pennsylvania | Novedosos vectores de virus adenoasociado (aav), vectores de aav que tienen una desamidacion reducida de la capside y usos de estos. |
| IL276859B2 (en) | 2018-02-27 | 2025-12-01 | Univ Pennsylvania | Novel adeno-associated virus (aav) vectors, aav vectors having reduced capsid deamidation and uses therefor |
| JP2021534794A (ja) * | 2018-08-29 | 2021-12-16 | リサーチ インスティチュート アット ネイションワイド チルドレンズ ホスピタル | 変異型ｇａｒｓタンパク質の発現を阻害するための生成物および方法 |
| WO2020132455A1 (en) | 2018-12-21 | 2020-06-25 | The Trustees Of The University Of Pennsylvania | Compositions for drg-specific reduction of transgene expression |
-
2021
- 2021-07-13 IL IL299762A patent/IL299762A/en unknown
- 2021-07-13 BR BR112023000578A patent/BR112023000578A2/pt unknown
- 2021-07-13 CN CN202180062652.6A patent/CN116438311A/zh active Pending
- 2021-07-13 TW TW110125641A patent/TW202216244A/zh unknown
- 2021-07-13 CA CA3185281A patent/CA3185281A1/en active Pending
- 2021-07-13 MX MX2023000658A patent/MX2023000658A/es unknown
- 2021-07-13 AU AU2021309645A patent/AU2021309645A1/en active Pending
- 2021-07-13 EP EP21754870.0A patent/EP4179097A1/en active Pending
- 2021-07-13 KR KR1020237003861A patent/KR20230038503A/ko active Pending
- 2021-07-13 US US18/005,504 patent/US20230270884A1/en active Pending
- 2021-07-13 WO PCT/US2021/041406 patent/WO2022015715A1/en not_active Ceased
- 2021-07-13 JP JP2023502675A patent/JP2023534037A/ja active Pending
-
2023
- 2023-01-11 ZA ZA2023/00505A patent/ZA202300505B/en unknown
- 2023-02-10 CO CONC2023/0001500A patent/CO2023001500A2/es unknown
Also Published As
| Publication number | Publication date |
|---|---|
| CN116438311A (zh) | 2023-07-14 |
| CO2023001500A2 (es) | 2023-05-19 |
| CA3185281A1 (en) | 2022-01-20 |
| JP2023534037A (ja) | 2023-08-07 |
| EP4179097A1 (en) | 2023-05-17 |
| AU2021309645A1 (en) | 2023-02-09 |
| KR20230038503A (ko) | 2023-03-20 |
| IL299762A (en) | 2023-03-01 |
| ZA202300505B (en) | 2023-09-27 |
| TW202216244A (zh) | 2022-05-01 |
| US20230270884A1 (en) | 2023-08-31 |
| WO2022015715A1 (en) | 2022-01-20 |
| MX2023000658A (es) | 2023-02-23 |
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