Compositions and methods for ameliorating myosin viia defects

Abstract

The invention provides compositions and methods for ameliorating defects in myosin VIIa (MYO7A) expression and/or function, including providing vectors for myosin VIIa expression and formulations comprising them, and methods of using them, for treating human retinitis pigmentosa (or retinal degeneration), and blindness and deafness such as that found in Usher syndrome. The invention provides in vivo gene therapy for ameliorating defects in myosin VIIa (MYO7A) expression and/or function, including compositions and methods for gene transfer of the human myosin VIIa (MYO7A) gene (the MYO7A gene.

1 . A method for the treatment or amelioration of an Usher 1B syndrome ocular disease, comprising delivering to subject in need of said treatment, an expression vehicle comprising or consisting of an equine infectious anemia virus vector or equivalent therapy vehicle comprising a CMV-MYO7A promoter or an equivalent promoter active in a photoreceptor cell and/or a retinal pigment epithelium (RPE) cell in operable linkage with a polynucleotide sequence encoding a MYO7A protein, wherein the MYO7A protein is expressed in said target cells, thereby treating the Usher 1B syndrome ocular disease in said subject. 
     
     
         2 - 4 . (canceled) 
     
     
         5 . The method of  claim 1 , wherein the promoter is a CMV promoter. 
     
     
         6 . The method of  claim 1  wherein the promoter is a CMV-MYO7A chimeric promoter. 
     
     
         7 - 15 . (canceled) 
     
     
         16 . The method of  claim 1 , wherein the equine infectious anemia virus vector or equivalent therapy vehicle further comprises a chromosomal integration sequence, or equivalent thereof, or a chromosomal integration sequence and a chromatin insulator.