Gene therapy for NMNAT1-associated retinal degeneration
AssigneeMassachusetts Eye and Ear Infirmary
InventorsEric A. Pierce, Luk H. Vandenberghe, Scott Greenwald, Emily Brown
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Abstract
Methods and compositions for gene therapy of retinal degeneration related to mutations in nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1).
Claims18
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.
A method of increasing expression of NMNAT1 in photoreceptor cells in an eye of a human subject, the method comprising delivering to the eye of the subject a therapeutically effective amount of an Adeno-associated virus type 2/9 (AAV2/9) vector comprising a sequence encoding a functional human NMNAT1, operably linked to a CASI promoter that drives expression in the photoreceptor cells, wherein the subject has retinal degeneration caused by a mutation in a nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) gene, wherein the sequence encoding the functional human NMNAT1 is at least 97% identical to SEQ ID NO:
- 1.
An Adeno-associated virus type 2/9 (AAV2/9) vector comprising a sequence encoding a functional human NMNAT1, operably linked to a CASI promotor that drives expression in photoreceptor cells, wherein the sequence encoding the functional human NMNAT1 is codon at least 98% identical to SEQ ID NO:
- 1.
Dependencies are inferred from the claim text.