	US 12,257,320 B2
	Gene therapy for NMNAT1-associated retinal degeneration
Eric A. Pierce, Belmont, MA (US); Luk H. Vandenberghe, Weston, MA (US); Scott Greenwald, Boston, MA (US); and Emily Brown, Boston, MA (US)
Assigned to Massachusetts Eye and Ear Infirmary, Boston, MA (US)
Filed by Massachusetts Eye and Ear Infirmary, Boston, MA (US)
Filed on Mar. 11, 2021, as Appl. No. 17/199,115.
Claims priority of provisional application 62/988,260, filed on Mar. 11, 2020.
Prior Publication US 2021/0299277 A1, Sep. 30, 2021
Int. Cl. A61K 48/00 (2006.01); A61K 9/00 (2006.01); A61K 38/45 (2006.01); A61P 27/02 (2006.01)

CPC A61K 48/0058 (2013.01) [A61K 9/0048 (2013.01); A61K 38/45 (2013.01); A61K 48/0075 (2013.01); A61P 27/02 (2018.01); C12Y 207/07001 (2013.01)]

18 Claims

1. A method of treating retinal degeneration caused by mutations in a nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) gene in a human subject, the method comprising delivering to an eye of the subject a therapeutically effective amount of an Adeno-associated virus 2/9 (AAV2/9) vector comprising a sequence encoding a functional human NMNAT1, operably linked to a CASI promoter that drives expression in photoreceptors, wherein the sequence encoding the functional human NMNAT1 is at least 98% identical to SEQ ID NO: 1.