Title:
METHOD FOR TREATING MUSCULAR DYSTROPHY BY TARGETING LAMA1 GENE
Document Type and Number:
WIPO Patent Application WO/2021/033635
Kind Code:
A1
Abstract:
The present invention aims to provide a novel therapeutic approach to human muscular dystrophy (particularly MDC1A). The present invention provide a polynucleotide comprising the following base sequences: (a) a base sequence encoding a fusion protein of a nuclease-deficient CRISPR effector protein and a transcription activator, and (b) a base sequence encoding (i) a guide RNA targeting a continuous region set forth in SEQ ID NO: 15, 20, 25, 50, 56, or 61, (ii) a guide RNA targeting a continuous region set forth in SEQ ID NO: 124, or (iii) a guide RNA targeting a continuous region set forth in SEQ ID NO: 178, 193, or 195, in the expression regulatory region of human LAMA1 gene.
Inventors:
QIN YUANBO (US)
YAMAGATA TETSUYA (US)
YAMAGATA TETSUYA (US)
Application Number:
PCT/JP2020/030864
Publication Date:
February 25, 2021
Filing Date:
August 14, 2020
Export Citation:
Assignee:
MODALIS THERAPEUTICS CORP (JP)
International Classes:
C12N15/113; C07K14/005; C07K14/47; C12N9/22
Domestic Patent References:
| WO2005033321A2 | 2005-04-14 | |||
| WO2012057363A1 | 2012-05-03 | |||
| WO2016153012A1 | 2016-09-29 |
Foreign References:
| US20130275352A1 | 2013-10-17 | |||
| JP2019041292A | 2019-03-14 | |||
| USPP62682244P | ||||
| USPP62749855P | ||||
| USPP62715432P | ||||
| US20110212529A1 | 2011-09-01 | |||
| US201962887863P | 2019-08-16 | |||
| US202063008059P | 2020-04-10 |
Other References:
KEMALADEWI DWI U ET AL: "A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene", NATURE, MACMILLAN JOURNALS LTD, LONDON, vol. 572, no. 7767, 24 July 2019 (2019-07-24), pages 125 - 130, XP036848585, ISSN: 0028-0836, [retrieved on 20190724], DOI: 10.1038/S41586-019-1430-X
ARNAUD PERRIN ET AL: "Increased Expression of Laminin Subunit Alpha 1 Chain by dCas9-VP160", MOLECULAR THERAPY-NUCLEIC ACIDS, vol. 6, 10 December 2016 (2016-12-10), US, pages 68 - 79, XP055742450, ISSN: 2162-2531, DOI: 10.1016/j.omtn.2016.11.004
BY PRABHPREET ET AL: "Assessing the Therapeutic Potential of CRISPR/Cas9-Mediated Gene Modulation in Merosin-Deficient Congenital Muscular Dystrophy Type 1A", 1 November 2017 (2017-11-01), pages 1 - 76, XP055742489, Retrieved from the Internet [retrieved on 20201021]
LUKE A. GILBERT ET AL: "Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation", CELL, vol. 159, no. 3, 23 October 2014 (2014-10-23), AMSTERDAM, NL, pages 647 - 661, XP055247644, ISSN: 0092-8674, DOI: 10.1016/j.cell.2014.09.029
SILVANA KONERMANN ET AL: "Genome-scale transcriptional activation by an engineered CRISPR-Cas9 complex", NATURE, vol. 517, no. 7536, 10 December 2014 (2014-12-10), London, pages 583 - 588, XP055585957, ISSN: 0028-0836, DOI: 10.1038/nature14136
KEMALADEWI, D. U.MAINO, E.HYATT, E.HOU, H.DING, M.PLACE, K. M.ZHU, X.BASSI, P.BAGHESTANI, Z.DESHWAR, A. G., NAT MEDICINE, vol. 23, 2017, pages 8
PRABHPREET SINGH BASSI: "Assessing the Therapeutic Potential of CRISPR/ Cas9-Mediated Gene Modulation in Merosin-Deficient Congenital Muscular Dystrophy Type 1A", A THESIS SUBMITTED IN CONFORMITY WITH THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE, DEPARTMENT OF MOLECULAR GENETICS, UNIVERSITY OF TORONTO, 2017
DWI U. KEMALADEWIPRABHPREET S. BASSISTEVEN ERWOODDHEKRA AL-BASHAKINGA I. GAWLIKKYLE LINDSAYELZBIETA HYATTREBEKAH KEMBERKARA M. PLA: "A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene", NATURE, vol. 572, 2019, pages 125, XP036848585, DOI: 10.1038/s41586-019-1430-x
ZHANG F. ET AL., HUM MOL GENET, vol. 23(R1, 15 September 2014 (2014-09-15), pages R40 - 6
ZETSCHE B. ET AL., CELL, vol. 163, no. 3, 22 October 2015 (2015-10-22), pages 759 - 71
NISHIMASU ET AL., CELL, vol. 156, no. 5, 27 February 2014 (2014-02-27), pages 935 - 49
ESVELT KM ET AL., NAT METHODS, vol. 10, no. 11, November 2013 (2013-11-01), pages 1116 - 21
ZHANG Y., MOL CELL, vol. 60, no. 2, 15 October 2015 (2015-10-15), pages 242 - 55
FRIEDLAND AE ET AL., GENOME BIOL, vol. 16, 24 November 2015 (2015-11-24), pages 257
NISHIMASU ET AL., CELL, 2014
FRIEDLAND AE ET AL., GENOME BIOL, 2015
YAMANO T ET AL., CELL, vol. 165, no. 4, 5 May 2016 (2016-05-05), pages 949 - 62
YAMANO T ET AL., MOL CELL, vol. 67, no. 4, 17 August 2017 (2017-08-17), pages 633 - 45
ZETSCHE B ET AL., CELL, 2015
CHAVEZ A. ET AL., NAT METHODS, vol. 13, no. 7, July 2016 (2016-07-01), pages 563 - 7
CHAVEZ A. ET AL., NAT METHODS, vol. 12, no. 4, April 2015 (2015-04-01), pages 326 - 8
J VIROL, vol. 66, no. 9, September 1992 (1992-09-01), pages 5500 - 8
MCCARTHY JJ ET AL., SKELETAL MUSCLE, vol. 2, no. 1, May 2012 (2012-05-01), pages 8
WANG B. ET AL., GENE THER, vol. 15, no. 22, November 2008 (2008-11-01), pages 1489 - 99
LEE K. ET AL., NAT BIOMED ENG, vol. 1, 2017, pages 889 - 901
ARNAUD PERRIN ET AL: "Increased Expression of Laminin Subunit Alpha 1 Chain by dCas9-VP160", MOLECULAR THERAPY-NUCLEIC ACIDS, vol. 6, 10 December 2016 (2016-12-10), US, pages 68 - 79, XP055742450, ISSN: 2162-2531, DOI: 10.1016/j.omtn.2016.11.004
BY PRABHPREET ET AL: "Assessing the Therapeutic Potential of CRISPR/Cas9-Mediated Gene Modulation in Merosin-Deficient Congenital Muscular Dystrophy Type 1A", 1 November 2017 (2017-11-01), pages 1 - 76, XP055742489, Retrieved from the Internet
LUKE A. GILBERT ET AL: "Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation", CELL, vol. 159, no. 3, 23 October 2014 (2014-10-23), AMSTERDAM, NL, pages 647 - 661, XP055247644, ISSN: 0092-8674, DOI: 10.1016/j.cell.2014.09.029
SILVANA KONERMANN ET AL: "Genome-scale transcriptional activation by an engineered CRISPR-Cas9 complex", NATURE, vol. 517, no. 7536, 10 December 2014 (2014-12-10), London, pages 583 - 588, XP055585957, ISSN: 0028-0836, DOI: 10.1038/nature14136
KEMALADEWI, D. U.MAINO, E.HYATT, E.HOU, H.DING, M.PLACE, K. M.ZHU, X.BASSI, P.BAGHESTANI, Z.DESHWAR, A. G., NAT MEDICINE, vol. 23, 2017, pages 8
PRABHPREET SINGH BASSI: "Assessing the Therapeutic Potential of CRISPR/ Cas9-Mediated Gene Modulation in Merosin-Deficient Congenital Muscular Dystrophy Type 1A", A THESIS SUBMITTED IN CONFORMITY WITH THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE, DEPARTMENT OF MOLECULAR GENETICS, UNIVERSITY OF TORONTO, 2017
DWI U. KEMALADEWIPRABHPREET S. BASSISTEVEN ERWOODDHEKRA AL-BASHAKINGA I. GAWLIKKYLE LINDSAYELZBIETA HYATTREBEKAH KEMBERKARA M. PLA: "A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene", NATURE, vol. 572, 2019, pages 125, XP036848585, DOI: 10.1038/s41586-019-1430-x
ZHANG F. ET AL., HUM MOL GENET, vol. 23(R1, 15 September 2014 (2014-09-15), pages R40 - 6
ZETSCHE B. ET AL., CELL, vol. 163, no. 3, 22 October 2015 (2015-10-22), pages 759 - 71
NISHIMASU ET AL., CELL, vol. 156, no. 5, 27 February 2014 (2014-02-27), pages 935 - 49
ESVELT KM ET AL., NAT METHODS, vol. 10, no. 11, November 2013 (2013-11-01), pages 1116 - 21
ZHANG Y., MOL CELL, vol. 60, no. 2, 15 October 2015 (2015-10-15), pages 242 - 55
FRIEDLAND AE ET AL., GENOME BIOL, vol. 16, 24 November 2015 (2015-11-24), pages 257
NISHIMASU ET AL., CELL, 2014
FRIEDLAND AE ET AL., GENOME BIOL, 2015
YAMANO T ET AL., CELL, vol. 165, no. 4, 5 May 2016 (2016-05-05), pages 949 - 62
YAMANO T ET AL., MOL CELL, vol. 67, no. 4, 17 August 2017 (2017-08-17), pages 633 - 45
ZETSCHE B ET AL., CELL, 2015
CHAVEZ A. ET AL., NAT METHODS, vol. 13, no. 7, July 2016 (2016-07-01), pages 563 - 7
CHAVEZ A. ET AL., NAT METHODS, vol. 12, no. 4, April 2015 (2015-04-01), pages 326 - 8
J VIROL, vol. 66, no. 9, September 1992 (1992-09-01), pages 5500 - 8
MCCARTHY JJ ET AL., SKELETAL MUSCLE, vol. 2, no. 1, May 2012 (2012-05-01), pages 8
WANG B. ET AL., GENE THER, vol. 15, no. 22, November 2008 (2008-11-01), pages 1489 - 99
LEE K. ET AL., NAT BIOMED ENG, vol. 1, 2017, pages 889 - 901
Attorney, Agent or Firm:
TAKASHIMA, Hajime (JP)
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