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 | |
| US62/937,556 | 2019-11-19 | ||
| US62/937,583 | 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 (3)
| Publication Number | Publication Date |
|---|---|
| JP2023503046A JP2023503046A (ja) | 2023-01-26 |
| JP2023503046A5 JP2023503046A5 (https=) | 2023-11-28 |
| JPWO2021102107A5 true JPWO2021102107A5 (https=) | 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 (https=) |
| EP (1) | EP4061946A4 (https=) |
| JP (1) | JP2023503046A (https=) |
| KR (1) | KR20220098384A (https=) |
| CN (1) | CN116096895A (https=) |
| AU (1) | AU2020388634A1 (https=) |
| CA (1) | CA3159018A1 (https=) |
| IL (1) | IL293068A (https=) |
| MX (1) | MX2022005916A (https=) |
| PH (1) | PH12022551229A1 (https=) |
| WO (1) | WO2021102107A1 (https=) |
Families Citing this family (16)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2020102645A1 (en) * | 2018-11-16 | 2020-05-22 | Asklepios Biopharmaceutical, Inc. | Therapeutic adeno-associated virus for treating pompe disease |
| US20240287148A1 (en) * | 2021-07-15 | 2024-08-29 | Cornell University | Engineered biomolecules for nutrient reprogramming |
| KR20240073025A (ko) * | 2021-08-25 | 2024-05-24 | 캔브리지 파마슈티컬스, 인크. | 간-향성 캡시드 단백질 및 알파-갈락토시다제를 포함하는 aav 입자 및 파브리 질환을 치료하기 위한 이의 용도 |
| TW202338095A (zh) * | 2021-08-25 | 2023-10-01 | 美商北海康成製藥有限公司 | 包含肝臟向性衣殼蛋白質及酸α-葡萄糖苷酶(GAA)之AAV顆粒及其用於治療龐貝氏病(POMPE DISEASE)之用途 |
| MX2024009003A (es) * | 2022-01-21 | 2024-09-17 | Astrazeneca Ireland Ltd | Terapia genica para la enfermedad de gaucher. |
| KR20240145491A (ko) * | 2022-02-03 | 2024-10-07 | 아스텔라스 진 테라피스, 인크. | 폼페병의 개선된 치료를 위한 조성물 및 방법 |
| 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 |
| EP4493704A2 (en) * | 2022-03-18 | 2025-01-22 | 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 |
| EP4698655A1 (en) * | 2023-04-20 | 2026-02-25 | AskBio Inc. | Liver-specific regulatory nucleic acid sequences |
| KR20240159745A (ko) | 2023-04-28 | 2024-11-06 | 아주대학교산학협력단 | 유산균 유래 nadh 산화효소를 이용한 비알코올성 지방간염의 유전자 치료제 |
| WO2025018822A1 (ko) * | 2023-07-20 | 2025-01-23 | 제닉스큐어 주식회사 | 라포라병을 예방 또는 치료하기 위한 재조합 아데노 연관 바이러스 및 이를 포함하는 약학적 조성물 |
| KR102814185B1 (ko) * | 2023-07-20 | 2025-06-12 | 제닉스큐어 주식회사 | 라포라병을 예방 또는 치료하기 위한 재조합 아데노 연관 바이러스 및 이를 포함하는 약학적 조성물 |
| AU2024317483A1 (en) * | 2023-07-28 | 2026-01-29 | Regeneron Pharmaceuticals, Inc. | Anti-tfr:gaa and anti-cd63:gaa insertion for treatment of pompe disease |
Family Cites Families (14)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| AU2001266740A1 (en) * | 2000-06-06 | 2001-12-17 | Genelabs Technologies, Inc. | Promoters for regulated gene expression |
| ATE521701T1 (de) * | 2003-01-22 | 2011-09-15 | Univ Duke | Verbesserte konstrukte zur expression lysosomaler polypeptide |
| US7521211B2 (en) * | 2005-04-05 | 2009-04-21 | Regeneron Pharmaceuticals, Inc | IGF-1 and IGF-2 chimeric polypeptides and therapeutic uses thereof |
| EP2162540A2 (en) * | 2007-05-22 | 2010-03-17 | Amgen Inc. | Compositions and methods for producing bioactive fusion proteins |
| HRP20170698T1 (hr) * | 2008-05-07 | 2017-09-22 | Biomarin Pharmaceutical Inc. | Lizosomski usmjereni peptidi i njihove uporabe |
| AU2010366066B2 (en) * | 2010-12-22 | 2016-01-14 | Fondazione Telethon | Therapeutic strategies to treat CNS pathology in mucopolysaccharidoses |
| MX2013012345A (es) * | 2011-04-22 | 2015-05-07 | Genzyme Corp | Alfa glucosidasa acida modificada con procesamiento acelerado. |
| KR102423442B1 (ko) * | 2015-12-11 | 2022-07-20 | 캘리포니아 인스티튜트 오브 테크놀로지 | 아데노-관련 바이러스를 지시하기 위한 타겟팅 펩타이드 |
| EP3293260A1 (en) * | 2016-09-12 | 2018-03-14 | Genethon | Acid-alpha glucosidase variants and uses thereof |
| EP3293259A1 (en) * | 2016-09-12 | 2018-03-14 | Genethon | Acid-alpha glucosidase variants and uses thereof |
| US12296026B2 (en) * | 2018-02-05 | 2025-05-13 | Astellas Gene Therapies, Inc. | Transcription regulatory elements and uses thereof |
| JP7779653B2 (ja) * | 2018-02-07 | 2025-12-03 | リジェネロン・ファーマシューティカルズ・インコーポレイテッド | 治療用タンパク質送達のための方法および組成物 |
| KR20210005154A (ko) * | 2018-04-30 | 2021-01-13 | 아미쿠스 세라퓨틱스, 인코포레이티드 | 유전자 요법 작제물 및 사용 방법 |
| WO2020102645A1 (en) * | 2018-11-16 | 2020-05-22 | Asklepios Biopharmaceutical, Inc. | Therapeutic adeno-associated virus for treating pompe disease |
-
2020
- 2020-11-19 CA CA3159018A patent/CA3159018A1/en active Pending
- 2020-11-19 EP EP20890917.6A patent/EP4061946A4/en active Pending
- 2020-11-19 PH PH1/2022/551229A patent/PH12022551229A1/en unknown
- 2020-11-19 MX MX2022005916A patent/MX2022005916A/es unknown
- 2020-11-19 IL IL293068A patent/IL293068A/en unknown
- 2020-11-19 US US17/778,175 patent/US20230038520A1/en active Pending
- 2020-11-19 AU AU2020388634A patent/AU2020388634A1/en active Pending
- 2020-11-19 KR KR1020227020169A patent/KR20220098384A/ko active Pending
- 2020-11-19 CN CN202080093548.9A patent/CN116096895A/zh active Pending
- 2020-11-19 JP JP2022529007A patent/JP2023503046A/ja active Pending
- 2020-11-19 WO PCT/US2020/061223 patent/WO2021102107A1/en not_active Ceased
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