US 11,806,408 B2
Methods and compositions for treating cone-rod retinal dystrophy
Shannon E. Boye, Gainesville, FL (US); Sanford L. Boye, Gainesville, FL (US); and Morgan Maeder, Jamaica Plain, MA (US)
Assigned to University of Florida Research Foundation, Incorporated, Gainesville, FL (US); and Editas Medicine, Inc., Cambridge, MA (US)
Appl. No. 16/642,582
Filed by University of Florida Research Foundation, Incorporated, Gainesville, FL (US); and Editas Medicine, Inc., Cambridge, MA (US)
PCT Filed Aug. 28, 2018, PCT No. PCT/US2018/048405
§ 371(c)(1), (2) Date Feb. 27, 2020,
PCT Pub. No. WO2019/046341, PCT Pub. Date Mar. 7, 2019.
Claims priority of provisional application 62/664,063, filed on Apr. 27, 2018.
Claims priority of provisional application 62/551,212, filed on Aug. 28, 2017.
Prior Publication US 2020/0345865 A1, Nov. 5, 2020
Int. Cl. A61K 48/00 (2006.01); C12N 15/79 (2006.01); C07H 21/04 (2006.01); A61K 35/761 (2015.01); C12N 15/86 (2006.01); C07H 21/02 (2006.01)
CPC A61K 48/005 (2013.01) [A61K 35/761 (2013.01); A61K 48/0075 (2013.01); C12N 15/86 (2013.01); C07H 21/02 (2013.01); C07H 21/04 (2013.01); C12N 2310/20 (2017.05); C12N 2750/14143 (2013.01); C12N 2800/80 (2013.01)] 15 Claims
 
1. A method of treating cone-rod dystrophy type 6 (CORD6) in a subject, the method comprising injecting into an eye of the subject having CORD6:
a first nucleic acid that encodes a guide RNA (gRNA) that targets both an autosomal dominant allele of a guanylate cyclase 2D (GUCY2D) gene and a wild-type allele of a GUCY2D gene in the subject,
a second nucleic acid that encodes an RNA-guided endonuclease, and
a replacement nucleic acid that comprises a functional GUCY2D gene that is hardened such that the gRNA no longer recognizes a target site in the gene, or the RNA-guided endonuclease no longer recognizes the protospacer adjacent motif (PAM) site adjacent to the target site.