JPWO2021102107A5 - - Google Patents
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- Publication number
- JPWO2021102107A5 JPWO2021102107A5 JP2022529007A JP2022529007A JPWO2021102107A5 JP WO2021102107 A5 JPWO2021102107 A5 JP WO2021102107A5 JP 2022529007 A JP2022529007 A JP 2022529007A JP 2022529007 A JP2022529007 A JP 2022529007A JP WO2021102107 A5 JPWO2021102107 A5 JP WO2021102107A5
- Authority
- JP
- Japan
- Prior art keywords
- seq
- nucleic acid
- sequence
- aav vector
- gaa
- 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.)
- Pending
Links
- 150000007523 nucleic acids Chemical group 0.000 claims description 193
- 239000013607 AAV vector Substances 0.000 claims description 160
- 108090000765 processed proteins & peptides Proteins 0.000 claims description 138
- 229920001184 polypeptide Polymers 0.000 claims description 102
- 102000004196 processed proteins & peptides Human genes 0.000 claims description 102
- 108020004707 nucleic acids Proteins 0.000 claims description 92
- 102000039446 nucleic acids Human genes 0.000 claims description 92
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 83
- 239000012634 fragment Substances 0.000 claims description 81
- 108010076504 Protein Sorting Signals Proteins 0.000 claims description 61
- 230000000694 effects Effects 0.000 claims description 54
- 239000013598 vector Substances 0.000 claims description 40
- 230000003248 secreting effect Effects 0.000 claims description 38
- 230000008685 targeting Effects 0.000 claims description 36
- 241001164825 Adeno-associated virus - 8 Species 0.000 claims description 28
- 101001076292 Homo sapiens Insulin-like growth factor II Proteins 0.000 claims description 28
- 102100025947 Insulin-like growth factor II Human genes 0.000 claims description 28
- 230000028327 secretion Effects 0.000 claims description 25
- 230000007781 signaling event Effects 0.000 claims description 25
- 210000004185 liver Anatomy 0.000 claims description 24
- 102100033448 Lysosomal alpha-glucosidase Human genes 0.000 claims description 22
- 125000003275 alpha amino acid group Chemical group 0.000 claims description 22
- 108010028144 alpha-Glucosidases Proteins 0.000 claims description 20
- 230000004048 modification Effects 0.000 claims description 20
- 238000012986 modification Methods 0.000 claims description 20
- 108091029523 CpG island Proteins 0.000 claims description 16
- 102100037362 Fibronectin Human genes 0.000 claims description 16
- 108010002350 Interleukin-2 Proteins 0.000 claims description 16
- 150000001413 amino acids Chemical class 0.000 claims description 14
- 230000015788 innate immune response Effects 0.000 claims description 14
- 108020004705 Codon Proteins 0.000 claims description 13
- 108090000565 Capsid Proteins Proteins 0.000 claims description 12
- 102100023321 Ceruloplasmin Human genes 0.000 claims description 12
- 238000005457 optimization Methods 0.000 claims description 10
- 108020005345 3' Untranslated Regions Proteins 0.000 claims description 8
- 108010067306 Fibronectins Proteins 0.000 claims description 8
- 101150115151 GAA gene Proteins 0.000 claims description 8
- 208000015439 Lysosomal storage disease Diseases 0.000 claims description 8
- 238000001727 in vivo Methods 0.000 claims description 8
- 125000002924 primary amino group Chemical group [H]N([H])* 0.000 claims description 8
- 238000006467 substitution reaction Methods 0.000 claims description 8
- 101710145225 Cation-independent mannose-6-phosphate receptor Proteins 0.000 claims description 6
- 102100037182 Cation-independent mannose-6-phosphate receptor Human genes 0.000 claims description 6
- 206010053185 Glycogen storage disease type II Diseases 0.000 claims description 6
- 101100236307 Homo sapiens GAA gene Proteins 0.000 claims description 6
- 108010031792 IGF Type 2 Receptor Proteins 0.000 claims description 6
- 102000038460 IGF Type 2 Receptor Human genes 0.000 claims description 6
- 208000020584 Polyploidy Diseases 0.000 claims description 6
- 210000001519 tissue Anatomy 0.000 claims description 6
- 241000701161 unidentified adenovirus Species 0.000 claims description 6
- YNVAHBUBGBLIEY-WGDLNXRISA-N (1e,4e)-1,5-bis(2-hydroxyphenyl)penta-1,4-dien-3-one Chemical group OC1=CC=CC=C1\C=C\C(=O)\C=C\C1=CC=CC=C1O YNVAHBUBGBLIEY-WGDLNXRISA-N 0.000 claims description 4
- 102000008186 Collagen Human genes 0.000 claims description 4
- 108010035532 Collagen Proteins 0.000 claims description 4
- 101001028831 Homo sapiens Cation-independent mannose-6-phosphate receptor Proteins 0.000 claims description 4
- 102100021244 Integral membrane protein GPR180 Human genes 0.000 claims description 4
- 229920001436 collagen Polymers 0.000 claims description 4
- 230000037430 deletion Effects 0.000 claims description 4
- 238000012217 deletion Methods 0.000 claims description 4
- 230000004927 fusion Effects 0.000 claims description 4
- 108020001507 fusion proteins Proteins 0.000 claims description 4
- 102000037865 fusion proteins Human genes 0.000 claims description 4
- 201000004502 glycogen storage disease II Diseases 0.000 claims description 4
- 230000037431 insertion Effects 0.000 claims description 4
- 238000003780 insertion Methods 0.000 claims description 4
- 102000028416 insulin-like growth factor binding Human genes 0.000 claims description 4
- 108091022911 insulin-like growth factor binding Proteins 0.000 claims description 4
- 102220015681 rs145500807 Human genes 0.000 claims description 4
- 125000006850 spacer group Chemical group 0.000 claims description 4
- 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 group 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 description 2
- 241000202702 Adeno-associated virus - 3 Species 0.000 claims description 2
- 229920002527 Glycogen Polymers 0.000 claims description 2
- 208000032007 Glycogen storage disease due to acid maltase deficiency Diseases 0.000 claims description 2
- 239000002299 complementary DNA Substances 0.000 claims description 2
- 230000007812 deficiency Effects 0.000 claims description 2
- 239000003937 drug carrier Substances 0.000 claims description 2
- 229940096919 glycogen Drugs 0.000 claims description 2
- 208000007345 glycogen storage disease Diseases 0.000 claims description 2
- 238000007918 intramuscular administration Methods 0.000 claims description 2
- 238000007913 intrathecal administration Methods 0.000 claims description 2
- 238000001990 intravenous administration Methods 0.000 claims description 2
- 230000002132 lysosomal effect Effects 0.000 claims description 2
- 210000003205 muscle Anatomy 0.000 claims description 2
- 230000035772 mutation Effects 0.000 claims description 2
- 230000002107 myocardial effect Effects 0.000 claims description 2
- 239000002773 nucleotide Substances 0.000 claims description 2
- 125000003729 nucleotide group Chemical group 0.000 claims description 2
- 239000008194 pharmaceutical composition Substances 0.000 claims description 2
- 108020003175 receptors Proteins 0.000 claims description 2
- 102000005962 receptors Human genes 0.000 claims description 2
- 210000002966 serum Anatomy 0.000 claims description 2
- 210000002027 skeletal muscle Anatomy 0.000 claims description 2
- 238000007920 subcutaneous administration Methods 0.000 claims description 2
- 239000000203 mixture Substances 0.000 claims 14
- 238000000034 method Methods 0.000 description 15
- 241001082241 Lythrum hyssopifolia Species 0.000 description 1
Applications Claiming Priority (7)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201962937556P | 2019-11-19 | 2019-11-19 | |
US201962937583P | 2019-11-19 | 2019-11-19 | |
US62/937,583 | 2019-11-19 | ||
US62/937,556 | 2019-11-19 | ||
US202063023570P | 2020-05-12 | 2020-05-12 | |
US63/023,570 | 2020-05-12 | ||
PCT/US2020/061223 WO2021102107A1 (en) | 2019-11-19 | 2020-11-19 | Therapeutic adeno-associated virus comprising liver-specific promoters for treating pompe disease and lysosomal disorders |
Publications (2)
Publication Number | Publication Date |
---|---|
JP2023503046A JP2023503046A (ja) | 2023-01-26 |
JPWO2021102107A5 true JPWO2021102107A5 (zh) | 2023-11-28 |
Family
ID=75981066
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2022529007A Pending JP2023503046A (ja) | 2019-11-19 | 2020-11-19 | ポンペ病およびリソソーム障害を処置するための肝臓特異的プロモーターを含む治療用アデノ随伴ウイルス |
Country Status (11)
Country | Link |
---|---|
US (1) | US20230038520A1 (zh) |
EP (1) | EP4061946A4 (zh) |
JP (1) | JP2023503046A (zh) |
KR (1) | KR20220098384A (zh) |
CN (1) | CN116096895A (zh) |
AU (1) | AU2020388634A1 (zh) |
CA (1) | CA3159018A1 (zh) |
IL (1) | IL293068A (zh) |
MX (1) | MX2022005916A (zh) |
TW (1) | TW202132570A (zh) |
WO (1) | WO2021102107A1 (zh) |
Families Citing this family (9)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
EP3655041A4 (en) * | 2017-08-25 | 2021-04-21 | Ovid Therapeutics Inc | RECOMBINANT ADENO-ASSOCIATED VECTORS |
JP2022513067A (ja) * | 2018-11-16 | 2022-02-07 | アスクレピオス バイオファーマシューティカル, インコーポレイテッド | ポンペ病を処置するための治療用アデノ随伴ウイルス |
US20240287148A1 (en) * | 2021-07-15 | 2024-08-29 | Cornell University | Engineered biomolecules for nutrient reprogramming |
MX2024009003A (es) * | 2022-01-21 | 2024-09-17 | Astrazeneca Ireland Ltd | Terapia genica para la enfermedad de gaucher. |
WO2023164060A2 (en) * | 2022-02-25 | 2023-08-31 | Asklepios Biopharmaceutical, Inc. | Therapeutic adeno-associated virus for treating pompe disease with long term cessation of gaa enzyme replacement therapy |
WO2023172975A1 (en) * | 2022-03-08 | 2023-09-14 | University Of Massachusetts | Methods of raav packaging |
WO2023177885A2 (en) * | 2022-03-18 | 2023-09-21 | Asklepios Biopharmaceutical, Inc. | Therapeutic adeno-associated virus using codon optimized nucleic acid encoding alpha-glucosidase (gaa) for treating pompe disease, with signal peptide modifications |
WO2024055272A1 (zh) * | 2022-09-16 | 2024-03-21 | 复旦大学附属中山医院 | 能高效表达目的基因的mRNA载体系统、其构建及应用 |
WO2024212961A1 (en) * | 2023-04-10 | 2024-10-17 | Skyline Therapeutics (Shanghai) Co., Ltd. | Recombinant aav for the gene therapy of pompe disease |
Family Cites Families (9)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20040248262A1 (en) * | 2003-01-22 | 2004-12-09 | Koeberl Dwight D. | Constructs for expressing lysomal polypeptides |
US7521211B2 (en) * | 2005-04-05 | 2009-04-21 | Regeneron Pharmaceuticals, Inc | IGF-1 and IGF-2 chimeric polypeptides and therapeutic uses thereof |
JP5591691B2 (ja) * | 2007-05-22 | 2014-09-17 | アムジエン・インコーポレーテツド | 生物活性を有する融合タンパク質を作製するための組成物及び方法 |
JP2014513952A (ja) * | 2011-04-22 | 2014-06-19 | ジェンザイム・コーポレーション | 促進されたプロセシングを備えた修飾された酸性アルファグルコシダーゼ |
KR102423442B1 (ko) * | 2015-12-11 | 2022-07-20 | 캘리포니아 인스티튜트 오브 테크놀로지 | 아데노-관련 바이러스를 지시하기 위한 타겟팅 펩타이드 |
MA51753A (fr) * | 2018-02-05 | 2020-12-16 | Audentes Therapeutics Inc | Éléments de régulation de la transcription et utilisations associées |
CN112040985A (zh) * | 2018-02-07 | 2020-12-04 | 瑞泽恩制药公司 | 用于递送治疗性蛋白质的方法和组合物 |
CN112513071A (zh) * | 2018-04-30 | 2021-03-16 | 阿米库斯治疗学公司 | 基因治疗构建体和使用方法 |
JP2022513067A (ja) * | 2018-11-16 | 2022-02-07 | アスクレピオス バイオファーマシューティカル, インコーポレイテッド | ポンペ病を処置するための治療用アデノ随伴ウイルス |
-
2020
- 2020-11-19 IL IL293068A patent/IL293068A/en unknown
- 2020-11-19 US US17/778,175 patent/US20230038520A1/en active Pending
- 2020-11-19 EP EP20890917.6A patent/EP4061946A4/en active Pending
- 2020-11-19 CA CA3159018A patent/CA3159018A1/en active Pending
- 2020-11-19 WO PCT/US2020/061223 patent/WO2021102107A1/en unknown
- 2020-11-19 KR KR1020227020169A patent/KR20220098384A/ko unknown
- 2020-11-19 TW TW109140628A patent/TW202132570A/zh unknown
- 2020-11-19 JP JP2022529007A patent/JP2023503046A/ja active Pending
- 2020-11-19 MX MX2022005916A patent/MX2022005916A/es unknown
- 2020-11-19 AU AU2020388634A patent/AU2020388634A1/en active Pending
- 2020-11-19 CN CN202080093548.9A patent/CN116096895A/zh active Pending
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