METHODS FOR TREATMENT OF PHENYLKETONURIA Russian patent published in 2023 - IPC A61K48/00 C12N15/86 C12N9/02 

FIELD: biotechnology.

SUBSTANCE: vector genome based on a recombinant adeno-associated virus (hereinafter – rAAV) for the treatment of phenylketonuria (hereinafter – PKU) is described, containing: a promotor and a codon-optimized sequence encoding human phenylalanine hydroxylase (hereinafter – hPAH). In this case, the codon-optimized sequence contains SEQ ID NO: 7 or its variant at least 95% identical to SEQ ID NO: 7. A particle of rAAV for the treatment of PKU is presented, containing AAV capsid and the described vector genome. A pharmaceutical composition for the treatment of PKU, containing the vector genome, is also presented. A method for expression of protein in an individual is described, including administration to the individual of a composition containing the presented rAAV particle. A method for the treatment of PKU in an individual is also described, where the specified method includes administration to the individual of the described rAAV vector genome, or the presented particle, or the corresponding pharmaceutical composition. The use of rAAV vector genome or the above-mentioned particle for the production of a drug for the treatment of PKU in an individual is also presented.

EFFECT: invention expands the arsenal of remedies for the treatment of phenylketonuria by normalization of levels of amino acids, neurotransmitters, and neurotransmitter metabolites in individuals with phenylketonuria.

49 cl, 2 tbl, 68 dwg, 23 ex