JP2020519251A5 - - Google Patents
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- Publication number
- JP2020519251A5 JP2020519251A5 JP2019558745A JP2019558745A JP2020519251A5 JP 2020519251 A5 JP2020519251 A5 JP 2020519251A5 JP 2019558745 A JP2019558745 A JP 2019558745A JP 2019558745 A JP2019558745 A JP 2019558745A JP 2020519251 A5 JP2020519251 A5 JP 2020519251A5
- Authority
- JP
- Japan
- Prior art keywords
- promoter
- nucleic acid
- tuberin
- acid molecule
- raav
- 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.)
- Granted
Links
- 102000039446 nucleic acids Human genes 0.000 claims description 36
- 108020004707 nucleic acids Proteins 0.000 claims description 36
- 150000007523 nucleic acids Chemical class 0.000 claims description 36
- 230000001105 regulatory effect Effects 0.000 claims description 16
- 102000018898 GTPase-Activating Proteins Human genes 0.000 claims description 13
- 108091006094 GTPase-accelerating proteins Proteins 0.000 claims description 13
- 241000702421 Dependoparvovirus Species 0.000 claims description 11
- 101710175981 Hamartin Proteins 0.000 claims description 11
- 102000044632 Tuberous Sclerosis Complex 1 Human genes 0.000 claims description 11
- 241000701022 Cytomegalovirus Species 0.000 claims description 10
- 208000026911 Tuberous sclerosis complex Diseases 0.000 claims description 10
- 239000003623 enhancer Substances 0.000 claims description 10
- 208000009999 tuberous sclerosis Diseases 0.000 claims description 10
- 206010049459 Lymphangioleiomyomatosis Diseases 0.000 claims description 6
- 241000700605 Viruses Species 0.000 claims description 6
- 210000000234 capsid Anatomy 0.000 claims description 6
- 108090000623 proteins and genes Proteins 0.000 claims description 6
- 125000006850 spacer group Chemical group 0.000 claims description 6
- 108050009309 Tuberin Proteins 0.000 claims description 5
- 230000026731 phosphorylation Effects 0.000 claims description 5
- 238000006366 phosphorylation reaction Methods 0.000 claims description 5
- SZCZSKMCTGEJKI-UHFFFAOYSA-N tuberin Natural products COC1=CC=C(C=CNC=O)C=C1 SZCZSKMCTGEJKI-UHFFFAOYSA-N 0.000 claims description 5
- 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 description 4
- 101800000263 Acidic protein Proteins 0.000 claims description 4
- 101000834253 Gallus gallus Actin, cytoplasmic 1 Proteins 0.000 claims description 4
- 241000701024 Human betaherpesvirus 5 Species 0.000 claims description 4
- 206010039491 Sarcoma Diseases 0.000 claims description 4
- 102000001435 Synapsin Human genes 0.000 claims description 4
- 108050009621 Synapsin Proteins 0.000 claims description 4
- 108010022394 Threonine synthase Proteins 0.000 claims description 4
- 210000004556 brain Anatomy 0.000 claims description 4
- 210000004958 brain cell Anatomy 0.000 claims description 4
- 210000004027 cell Anatomy 0.000 claims description 4
- 102000004419 dihydrofolate reductase Human genes 0.000 claims description 4
- 230000002518 glial effect Effects 0.000 claims description 4
- 210000002064 heart cell Anatomy 0.000 claims description 4
- 201000007785 kidney angiomyolipoma Diseases 0.000 claims description 4
- 210000003292 kidney cell Anatomy 0.000 claims description 4
- 210000005265 lung cell Anatomy 0.000 claims description 4
- 239000000203 mixture Substances 0.000 claims description 4
- 108010079892 phosphoglycerol kinase Proteins 0.000 claims description 4
- 210000004927 skin cell Anatomy 0.000 claims description 4
- 101000795659 Homo sapiens Tuberin Proteins 0.000 claims description 2
- 241001492404 Woodchuck hepatitis virus Species 0.000 claims description 2
- 150000001413 amino acids Chemical class 0.000 claims description 2
- 230000005978 brain dysfunction Effects 0.000 claims description 2
- 239000003937 drug carrier Substances 0.000 claims description 2
- 102000058182 human TSC2 Human genes 0.000 claims description 2
- 210000005260 human cell Anatomy 0.000 claims description 2
- 210000004072 lung Anatomy 0.000 claims description 2
- 230000001124 posttranscriptional effect Effects 0.000 claims description 2
- 210000002254 renal artery Anatomy 0.000 claims description 2
- 210000002796 renal vein Anatomy 0.000 claims description 2
- 210000003491 skin Anatomy 0.000 claims description 2
- 239000003814 drug Substances 0.000 claims 16
- 102000044633 Tuberous Sclerosis Complex 2 Human genes 0.000 claims 2
- 239000008280 blood Substances 0.000 claims 1
- 210000004369 blood Anatomy 0.000 claims 1
- 210000004204 blood vessel Anatomy 0.000 claims 1
- 238000001990 intravenous administration Methods 0.000 claims 1
- 238000007914 intraventricular administration Methods 0.000 claims 1
- 238000000034 method Methods 0.000 description 19
- 102000002027 Tuberin Human genes 0.000 description 3
- 241001655883 Adeno-associated virus - 1 Species 0.000 description 1
- 241000702423 Adeno-associated virus - 2 Species 0.000 description 1
- 241000202702 Adeno-associated virus - 3 Species 0.000 description 1
- 241000580270 Adeno-associated virus - 4 Species 0.000 description 1
- 241001634120 Adeno-associated virus - 5 Species 0.000 description 1
- 241000972680 Adeno-associated virus - 6 Species 0.000 description 1
- 241001164823 Adeno-associated virus - 7 Species 0.000 description 1
- 241001164825 Adeno-associated virus - 8 Species 0.000 description 1
- 241000649045 Adeno-associated virus 10 Species 0.000 description 1
- 241000649046 Adeno-associated virus 11 Species 0.000 description 1
- 241000649047 Adeno-associated virus 12 Species 0.000 description 1
- ZAHRKKWIAAJSAO-UHFFFAOYSA-N rapamycin Natural products COCC(O)C(=C/C(C)C(=O)CC(OC(=O)C1CCCCN1C(=O)C(=O)C2(O)OC(CC(OC)C(=CC=CC=CC(C)CC(C)C(=O)C)C)CCC2C)C(C)CC3CCC(O)C(C3)OC)C ZAHRKKWIAAJSAO-UHFFFAOYSA-N 0.000 description 1
- QFJCIRLUMZQUOT-HPLJOQBZSA-N sirolimus Chemical compound C1C[C@@H](O)[C@H](OC)C[C@@H]1C[C@@H](C)[C@H]1OC(=O)[C@@H]2CCCCN2C(=O)C(=O)[C@](O)(O2)[C@H](C)CC[C@H]2C[C@H](OC)/C(C)=C/C=C/C=C/[C@@H](C)C[C@@H](C)C(=O)[C@H](OC)[C@H](O)/C(C)=C/[C@@H](C)C(=O)C1 QFJCIRLUMZQUOT-HPLJOQBZSA-N 0.000 description 1
- 229960002930 sirolimus Drugs 0.000 description 1
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2023026870A JP7725514B2 (ja) | 2017-05-17 | 2023-02-24 | 結節性硬化症の遺伝子治療 |
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201762507358P | 2017-05-17 | 2017-05-17 | |
| US62/507,358 | 2017-05-17 | ||
| PCT/US2018/033247 WO2018213618A1 (en) | 2017-05-17 | 2018-05-17 | Gene therapy for tuberous sclerosis |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2023026870A Division JP7725514B2 (ja) | 2017-05-17 | 2023-02-24 | 結節性硬化症の遺伝子治療 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2020519251A JP2020519251A (ja) | 2020-07-02 |
| JP2020519251A5 true JP2020519251A5 (enExample) | 2021-07-26 |
| JP7235676B2 JP7235676B2 (ja) | 2023-03-08 |
Family
ID=64274693
Family Applications (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2019558745A Active JP7235676B2 (ja) | 2017-05-17 | 2018-05-17 | 結節性硬化症の遺伝子治療 |
| JP2023026870A Active JP7725514B2 (ja) | 2017-05-17 | 2023-02-24 | 結節性硬化症の遺伝子治療 |
Family Applications After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2023026870A Active JP7725514B2 (ja) | 2017-05-17 | 2023-02-24 | 結節性硬化症の遺伝子治療 |
Country Status (6)
| Country | Link |
|---|---|
| US (2) | US11958887B2 (enExample) |
| EP (2) | EP4413990A3 (enExample) |
| JP (2) | JP7235676B2 (enExample) |
| CA (1) | CA3061656A1 (enExample) |
| ES (1) | ES2978297T3 (enExample) |
| WO (1) | WO2018213618A1 (enExample) |
Families Citing this family (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US11958887B2 (en) * | 2017-05-17 | 2024-04-16 | The General Hospital Corporation | Gene therapy for tuberous sclerosis |
| EP4355766A1 (en) * | 2021-06-14 | 2024-04-24 | Bridgebio Gene Therapy Research, Inc. | Gene therapy for tuberous sclerosis |
| EP4688004A2 (en) * | 2023-05-17 | 2026-02-11 | Research Institute at Nationwide Children's Hospital | Protein engineering micro-tuberin gene therapy candidates for tuberous sclerosis complex type 2 |
Family Cites Families (14)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5478745A (en) | 1992-12-04 | 1995-12-26 | University Of Pittsburgh | Recombinant viral vector system |
| US6884419B1 (en) * | 1996-12-23 | 2005-04-26 | Kyowa Hakko Kogyo, Co., Ltd. | hG-CSF fusion polypeptide having c-mpl activity, DNA coding for same and methods of treating anemia using same |
| DK2359869T3 (en) | 2001-12-17 | 2019-04-15 | Univ Pennsylvania | Sequences of adeno-associated virus (AAV) serotype 8, vectors containing these, and uses thereof |
| EP1546369A4 (en) | 2002-08-12 | 2007-01-17 | Univ Michigan | DIAGNOSIS AND TREATMENT OF DISEASES THROUGH DEFECTS IN THE TUBEROUS SKLEROSEPFAD |
| WO2004058166A2 (en) | 2002-12-23 | 2004-07-15 | Vical Incorporated | Codon-optimized polynucleotide-based vaccines against human cytomegalovirus infection |
| CN1897977A (zh) | 2003-10-20 | 2007-01-17 | Ns基因公司 | 帕金森氏病的体内基因治疗 |
| CL2008000707A1 (es) * | 2007-03-13 | 2008-09-22 | Hoffmann La Roche | Conjugado de polipeptidos antifusogenicos y polipeptidos derivados de la cabeza globular del factor del complemento c1q; composicion farmaceutica que lo comprende; su uso para tratar infecciones viricas; y metodo de produccion. |
| US7561972B1 (en) | 2008-06-06 | 2009-07-14 | Dna Twopointo, Inc. | Synthetic nucleic acids for expression of encoded proteins |
| US7561973B1 (en) | 2008-07-31 | 2009-07-14 | Dna Twopointo, Inc. | Methods for determining properties that affect an expression property value of polynucleotides in an expression system |
| WO2011020118A1 (en) | 2009-08-14 | 2011-02-17 | Theramind Research, Llc | Methods and compositions for treatment of tuberous sclerosis complex |
| US9249425B2 (en) | 2011-05-16 | 2016-02-02 | The Trustees Of The University Of Pennslyvania | Proviral plasmids and production of recombinant adeno-associated virus |
| WO2013151664A1 (en) * | 2012-04-02 | 2013-10-10 | modeRNA Therapeutics | Modified polynucleotides for the production of proteins |
| EP4223770A3 (en) | 2012-11-05 | 2023-10-18 | Foundation Medicine, Inc. | Novel fusion molecules and uses thereof |
| US11958887B2 (en) * | 2017-05-17 | 2024-04-16 | The General Hospital Corporation | Gene therapy for tuberous sclerosis |
-
2018
- 2018-05-17 US US16/613,907 patent/US11958887B2/en active Active
- 2018-05-17 EP EP24168056.0A patent/EP4413990A3/en active Pending
- 2018-05-17 WO PCT/US2018/033247 patent/WO2018213618A1/en not_active Ceased
- 2018-05-17 EP EP18801604.2A patent/EP3624856B1/en active Active
- 2018-05-17 ES ES18801604T patent/ES2978297T3/es active Active
- 2018-05-17 CA CA3061656A patent/CA3061656A1/en active Pending
- 2018-05-17 JP JP2019558745A patent/JP7235676B2/ja active Active
-
2023
- 2023-02-24 JP JP2023026870A patent/JP7725514B2/ja active Active
-
2024
- 2024-03-12 US US18/602,622 patent/US20240343768A1/en active Pending
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