THERAPEUTIC ADENO-ASSOCIATED VIRUS USING CODON OPTIMIZED NUCLEIC ACID ENCODING ALPHA-GLUCOSIDASE (GAA) FOR TREATING POMPE DISEASE, WITH SIGNAL PEPTIDE MODIFICATIONS

Abstract: disclosed herein is a method for the treatment of pompe disease comprising administering a recombinant aav (raav) vector comprising a ravv genome comprising a heterologous nucleic acid encoding a gaa signal peptide or portion thereof, a heterologous signal peptide, and an acid alpha-glucosidase (gaa) polypeptide, or n-terminal truncation thereof, where the heterologous nucleic acid is operatively linked to a liver-specific promoter, where the nucleic acid encoding gaa polypeptide can be wild type nucleic acid sequence, or modified nucleic acid sequence, or a codon optimized nucleic acid sequence, and can optionally be modified to reduce or completely eliminate cg and cpg dinucleotides and, optionally eliminated alternative reading frames (arf) content.

Inventor(s): Anna TRETIAKOVA, Xavier AUGUELA MARTINEZ, Lester SUAREZ, Scott HAMMOND

CPC Classification: A61K48/0058 (Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy)

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