	US 12,338,437 B2
	OPA1 antisense oligomers for treatment of conditions and diseases
Isabel Aznarez, Boston, MA (US); Aditya Venkatesh, Natick, MA (US); and Gene Liau, Wayland, MA (US)
Assigned to STOKE THERAPEUTICS, INC., Bedford, MA (US)
Appl. No. 17/924,966
Filed by Stoke Therapeutics, Inc., Bedford, MA (US)
PCT Filed Apr. 30, 2021, PCT No. PCT/US2021/030254 § 371(c)(1), (2) Date Nov. 11, 2022, PCT Pub. No. WO2021/231107, PCT Pub. Date Nov. 18, 2021.
Claims priority of provisional application 63/023,013, filed on May 11, 2020.
Claims priority of provisional application 63/112,458, filed on Nov. 11, 2020.
Prior Publication US 2023/0287410 A1, Sep. 14, 2023
Int. Cl. C12N 15/113 (2010.01); A61K 9/00 (2006.01); A61P 27/02 (2006.01); C12N 15/86 (2006.01)

CPC C12N 15/113 (2013.01) [A61K 9/0048 (2013.01); A61P 27/02 (2018.01); C12N 15/86 (2013.01); C12N 2310/11 (2013.01); C12N 2310/20 (2017.05); C12N 2310/314 (2013.01); C12N 2310/315 (2013.01); C12N 2310/321 (2013.01); C12N 2750/14143 (2013.01)]

20 Claims

1. A method of modulating expression of an OPA1 protein in a cell having a pre-mRNA, wherein the pre-mRNA is transcribed from an OPA1 gene, and wherein the pre-mRNA comprises a coding exon, the method comprising:

contacting an agent or a vector encoding the agent to the cell,

whereby the agent promotes exclusion of the coding exon from the pre-mRNA in the cell, thereby increasing a level of a processed mRNA that is processed from the pre-mRNA in the cell; and that lacks the coding exon,

wherein the agent comprises an antisense oligomer, and

wherein the antisense oligomer comprises a sequence with at least 80% sequence identity to one of the sequences set forth in SEQ ID NOs: 227-242, 250, 280-283, 288, and 290-292.