JPWO2021077101A5 - - Google Patents
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- JPWO2021077101A5 JPWO2021077101A5 JP2022523047A JP2022523047A JPWO2021077101A5 JP WO2021077101 A5 JPWO2021077101 A5 JP WO2021077101A5 JP 2022523047 A JP2022523047 A JP 2022523047A JP 2022523047 A JP2022523047 A JP 2022523047A JP WO2021077101 A5 JPWO2021077101 A5 JP WO2021077101A5
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- JP
- Japan
- Prior art keywords
- raav
- promoter
- irf2bpl
- cdna
- polynucleotide
- Prior art date
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参考文献：
Ｍａｒｃｏｇｌｉｅｓｅ ｅｔ ａｌ．，ＩＲＦ２ＢＰＬ Ｉｓ Ａｓｓｏｃｉａｔｅｄ ｗｉｔｈ Ｎｅｕｒｏｌｏｇｉｃａｌ Ｐｈｅｎｏｔｙｐｅｓ．Ｔｈｅ Ａｍｅｒｉｃａｎ Ｊｏｕｒｎａｌ ｏｆ Ｈｕｍａｎ Ｇｅｎｅｔｉｃｓ，２０１８，１０３（３）。
Ｍｅｙｅｒ ｅｔ ａｌ．Ｄｉｒｅｃｔ ｃｏｎｖｅｒｓｉｏｎ ｏｆ ｐａｔｉｅｎｔ ｆｉｂｒｏｂｌａｓｔｓ ｄｅｍｏｎｓｔｒａｔｅｓ ｎｏｎ－ｃｅｌｌ ａｕｔｏｎｏｍｏｕｓ ｔｏｘｉｃｉｔｙ ｏｆ ａｓｔｒｏｃｙｔｅｓ ｔｏ ｍｏｔｏｒ ｎｅｕｒｏｎｓ ｉｎ ｆａｍｉｌｉａｌ ａｎｄ ｓｐｏｒａｄｉｃ ＡＬＳ．ＰＮＡＳ，２０１４，２０１４，１１１（２）：８２９－８３２
Ｈｕ ｅｔ ａｌ．Ｄｉｒｅｃｔ Ｃｏｎｖｅｒｓｉｏｎ ｏｆ Ｎｏｒｍａｌ ａｎｄ Ａｌｚｈｅｉｍｅｒ’ｓ Ｄｉｓｅａｓｅ Ｈｕｍａｎ Ｆｉｂｒｏｂｌａｓｔｓ ｉｎｔｏ Ｎｅｕｒｏｎａｌ Ｃｅｌｌｓ ｂｙ Ｓｍａｌｌ Ｍｏｌｅｃｕｌｅｓ．Ｃｅｌｌ Ｓｔｅｍ Ｃｅｌｌ，２０１５，１７（２）：２０４－１２。
特定の実施形態では、例えば以下の項目が提供される。
（項目１）
ポリヌクレオチドであって、
（ａ）１つ以上の調節制御要素と、
（ｂ）インターフェロン調節因子２結合タンパク質様（ＩＲＦ２ＢＰＬ）ｃＤＮＡ配列と、を含む、ポリヌクレオチド。
（項目２）
前記調節制御要素が、ｐＩＲＦプロモーター、ｐ５４６プロモーター、もしくはＣＢＡプロモーター、またはそれらのフラグメントである、項目１に記載のポリヌクレオチド。
（項目３）
ｐＩＲＦプロモーターが、配列番号８、配列番号９、または配列番号１０を含む、項目１または２に記載のポリヌクレオチド。
（項目４）
前記ＩＲＦ２ＢＰＬ ｃＤＮＡが、配列番号１に記載されるポリヌクレオチド配列を含む、項目１または２に記載のポリヌクレオチド。
（項目５）
項目１～４のいずれか一項に記載のポリヌクレオチド配列を含むゲノムを有する、組換えアデノ随伴ウイルス（ｒＡＡＶ）。
（項目６）
前記ゲノムが、ｐＩＲＦプロモーターおよびＩＲＦ２ＢＰＬ ｃＤＮＡを含む、項目５に記載のｒＡＡＶ。
（項目７）
前記ゲノムが、ｐ５４６プロモーターおよびＩＲＦ２ＢＰＬ ｃＤＮＡを含む、項目５に記載のｒＡＡＶ。
（項目８）
前記ゲノムが、ＣＢＡプロモーターおよびＩＲＦ２ＢＰＬ ｃＤＮＡを含む、項目５に記載のｒＡＡＶ。
（項目９）
前記ゲノムが、ｐＩＲＦプロモーター、ｐ５４６プロモーター、およびＩＲＦ２ＢＰＬ ｃＤＮＡを含む、項目５に記載のｒＡＡＶ。
（項目１０）
前記ｒＡＡＶが、血清型ＡＡＶ１、ＡＡＶ２、ＡＡＶ３、ＡＡＶ４、ＡＡＶ５、ＡＡＶ６、ＡＡＶ７、ＡＡＶ８、ＡＡＶ９、ＡＡＶＲＨ１０、ＡＡＶＲＨ７４、ＡＡＶ１１、ＡＡＶ１２、ＡＡＶ１３、またはＡｎｃ８０、ＡＡＶ７ｍ８、およびそれらの誘導体のものである、項目５～９のいずれか一項に記載のｒＡＡＶ。
（項目１１）
項目５～１０のいずれか一項に記載のｒＡＡＶを含む、ｒＡＡＶ粒子。
（項目１２）
項目５～１０のいずれか一項に記載のｒＡＡＶまたは項目１１に記載のｒＡＡＶ粒子を投与することを含む、インターフェロン調節因子２結合タンパク質様（ＩＲＦ２ＢＰＬ）関連障害の治療を、それを必要とする対象において行う方法。
（項目１３）
前記障害が、ＮＥＤＡＭＳＳ（退行、異常な動き、言語喪失、および発作を伴う神経発達障害）を含む、項目１１に記載の方法。
（項目１４）
インターフェロン調節因子２結合タンパク質様（ＩＲＦ２ＢＰＬ）関連障害の治療のための薬剤の調製における、項目５～１０のいずれか一項に記載のｒＡＡＶまたは項目１１に記載のｒＡＡＶ粒子の使用。
（項目１５）
インターフェロン調節因子２結合タンパク質様（ＩＲＦ２ＢＰＬ）関連障害の治療のための、項目５～１０のいずれか一項に記載のｒＡＡＶまたは項目１１に記載のｒＡＡＶ粒子を含む、組成物。
References:
Marcogliese et al. , IRF2BPL Is Associated with Neurological Phenotypes. The American Journal of Human Genetics, 2018, 103(3).
Meyer et al. Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in family real and sporadic ALS. PNAS, 2014, 2014, 111(2):829-832
Hu et al. Direct Conversion of Normal and Alzheimer's Disease Human Fibroblasts into Neuronal Cells by Small Molecules. Cell Stem Cell, 2015, 17(2): 204-12.
In certain embodiments, for example, the following items are provided:
(Item 1)
A polynucleotide,
(a) one or more regulatory control elements;
(b) an interferon regulatory factor 2 binding protein-like (IRF2BPL) cDNA sequence.
(Item 2)
The polynucleotide of item 1, wherein the regulatory control element is a pIRF promoter, p546 promoter, or CBA promoter, or a fragment thereof.
(Item 3)
The polynucleotide according to item 1 or 2, wherein the pIRF promoter comprises SEQ ID NO: 8, SEQ ID NO: 9, or SEQ ID NO: 10.
(Item 4)
The polynucleotide according to item 1 or 2, wherein the IRF2BPL cDNA comprises the polynucleotide sequence set forth in SEQ ID NO: 1.
(Item 5)
A recombinant adeno-associated virus (rAAV) having a genome comprising the polynucleotide sequence according to any one of items 1 to 4.
(Item 6)
rAAV according to item 5, wherein the genome comprises a pIRF promoter and IRF2BPL cDNA.
(Item 7)
rAAV according to item 5, wherein the genome comprises a p546 promoter and IRF2BPL cDNA.
(Item 8)
rAAV according to item 5, wherein the genome comprises a CBA promoter and IRF2BPL cDNA.
(Item 9)
rAAV according to item 5, wherein the genome includes a pIRF promoter, a p546 promoter, and an IRF2BPL cDNA.
(Item 10)
Item 5, wherein the rAAV is of serotype AAV1, AAV2, AAV3, AAV4, AAV5, AAV6, AAV7, AAV8, AAV9, AAVRH10, AAVRH74, AAV11, AAV12, AAV13, or Anc80, AAV7m8, and derivatives thereof. rAAV according to any one of 1 to 9.
(Item 11)
rAAV particles comprising rAAV according to any one of items 5 to 10.
(Item 12)
Treatment of an interferon regulatory factor 2 binding protein-like (IRF2BPL)-related disorder, comprising administering the rAAV according to any one of items 5 to 10 or the rAAV particles according to item 11, to a subject in need thereof. How to do it.
(Item 13)
12. The method of item 11, wherein the disorder comprises NEDAMSS (Neurodevelopmental Disorder with Degeneration, Abnormal Movements, Speech Loss, and Seizures).
(Item 14)
Use of rAAV according to any one of items 5 to 10 or rAAV particles according to item 11 in the preparation of a medicament for the treatment of interferon regulatory factor 2 binding protein-like (IRF2BPL) related disorders.
(Item 15)
A composition comprising rAAV according to any one of items 5 to 10 or rAAV particles according to item 11 for the treatment of interferon regulatory factor 2 binding protein-like (IRF2BPL) related disorders.
Claims (12)
（ａ）１つ以上の調節制御要素であって、前記調節制御要素の１つが、ｐＩＲＦプロモーター、ｐ５４６プロモーター、もしくはＣＢＡプロモーター、またはそれらのフラグメントである、１つ以上の調節制御要素と、
（ｂ）インターフェロン調節因子２結合タンパク質様（ＩＲＦ２ＢＰＬ）ｃＤＮＡ配列と、を含む、ポリヌクレオチド。 A polynucleotide,
(a) one or more regulatory control elements, one or more of which is a pIRF promoter, p546 promoter, or CBA promoter, or a fragment thereof;
(b) an interferon regulatory factor 2 binding protein-like (IRF2BPL) cDNA sequence.
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201962923432P | 2019-10-18 | 2019-10-18 | |
| US62/923,432 | 2019-10-18 | ||
| PCT/US2020/056358 WO2021077101A1 (en) | 2019-10-18 | 2020-10-19 | Materials and methods for the treatment of disorders associated mutations in the irf2bpl gene |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| JP2022552014A JP2022552014A (en) | 2022-12-14 |
| JPWO2021077101A5 true JPWO2021077101A5 (en) | 2023-10-26 |
Family
ID=73402144
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2022523047A Pending JP2022552014A (en) | 2019-10-18 | 2020-10-19 | Materials and methods for the treatment of disorders associated with mutations in the IRF2BPL gene |
Country Status (6)
| Country | Link |
|---|---|
| US (1) | US20220389453A1 (en) |
| EP (1) | EP4045662A1 (en) |
| JP (1) | JP2022552014A (en) |
| AU (1) | AU2020366242A1 (en) |
| CA (1) | CA3158131A1 (en) |
| WO (1) | WO2021077101A1 (en) |
Families Citing this family (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN115927664A (en) * | 2022-11-09 | 2023-04-07 | 苏州赛美科基因科技有限公司 | Primer for rapidly identifying irf2bpl mutant zebra fish genotype and application thereof |
Family Cites Families (21)
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| US5173414A (en) | 1990-10-30 | 1992-12-22 | Applied Immune Sciences, Inc. | Production of recombinant adeno-associated virus vectors |
| WO1995013392A1 (en) | 1993-11-09 | 1995-05-18 | Medical College Of Ohio | Stable cell lines capable of expressing the adeno-associated virus replication gene |
| AU688428B2 (en) | 1993-11-09 | 1998-03-12 | Johns Hopkins University, The | Generation of high titers of recombinant AAV vectors |
| US5658785A (en) | 1994-06-06 | 1997-08-19 | Children's Hospital, Inc. | Adeno-associated virus materials and methods |
| US5856152A (en) | 1994-10-28 | 1999-01-05 | The Trustees Of The University Of Pennsylvania | Hybrid adenovirus-AAV vector and methods of use therefor |
| JPH10511264A (en) | 1994-12-06 | 1998-11-04 | ターゲティッド ジェネティックス コーポレイション | Packaging cell lines for the production of high titer recombinant AAV vectors |
| FR2737730B1 (en) | 1995-08-10 | 1997-09-05 | Pasteur Merieux Serums Vacc | PROCESS FOR PURIFYING VIRUSES BY CHROMATOGRAPHY |
| JPH11511326A (en) | 1995-08-30 | 1999-10-05 | ジエンザイム コーポレイション | Purification of adenovirus and AAV |
| EP0850313B8 (en) | 1995-09-08 | 2009-07-29 | Genzyme Corporation | Improved aav vectors for gene therapy |
| US5910434A (en) | 1995-12-15 | 1999-06-08 | Systemix, Inc. | Method for obtaining retroviral packaging cell lines producing high transducing efficiency retroviral supernatant |
| DE69739860D1 (en) | 1996-09-06 | 2010-06-02 | Univ Pennsylvania | Recombinant AAV for the manufacture of a medicament for gene therapy of muscle cells |
| DK1944362T3 (en) | 1997-09-05 | 2016-01-25 | Genzyme Corp | Fremgangsmåder til fremstilling af hjælpevirusfri præparater med høj titer af rekombinante AAV-vektorer |
| US6566118B1 (en) | 1997-09-05 | 2003-05-20 | Targeted Genetics Corporation | Methods for generating high titer helper-free preparations of released recombinant AAV vectors |
| US6258595B1 (en) | 1999-03-18 | 2001-07-10 | The Trustees Of The University Of Pennsylvania | Compositions and methods for helper-free production of recombinant adeno-associated viruses |
| CA2406743A1 (en) | 2000-04-28 | 2001-11-08 | The Trustees Of The University Of Pennsylvania | Recombinant aav vectors with aav5 capsids and aav5 vectors pseudotyped in heterologous capsids |
| ES2602352T3 (en) | 2001-12-17 | 2017-02-20 | The Trustees Of The University Of Pennsylvania | Sequences of serotype 8 of adeno-associated virus (VAA), vectors containing them and uses thereof |
| DE102012007232B4 (en) | 2012-04-07 | 2014-03-13 | Susanne Weller | Method for producing rotating electrical machines |
| JP2015092462A (en) | 2013-09-30 | 2015-05-14 | Tdk株式会社 | Positive electrode and lithium ion secondary battery using the same |
| JP6202701B2 (en) | 2014-03-21 | 2017-09-27 | 株式会社日立国際電気 | Substrate processing apparatus, semiconductor device manufacturing method, and program |
| JP6197169B2 (en) | 2014-09-29 | 2017-09-20 | 東芝メモリ株式会社 | Manufacturing method of semiconductor device |
| MX2019005874A (en) * | 2016-11-17 | 2020-02-07 | Nationwide Childrens Hospital Inc | Intrathecal delivery of recombinant adeno-associated virus encoding methyl-cpg binding protein 2. |
-
2020
- 2020-10-19 JP JP2022523047A patent/JP2022552014A/en active Pending
- 2020-10-19 AU AU2020366242A patent/AU2020366242A1/en active Pending
- 2020-10-19 CA CA3158131A patent/CA3158131A1/en active Pending
- 2020-10-19 EP EP20807186.0A patent/EP4045662A1/en active Pending
- 2020-10-19 WO PCT/US2020/056358 patent/WO2021077101A1/en unknown
- 2020-10-19 US US17/769,933 patent/US20220389453A1/en active Pending
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