VECTORS FOR TREATMENT OF FRIEDREICH'S ATAXIA Russian patent published in 2022 - IPC C12N15/86 A61K48/00 

FIELD: biotechnology.

SUBSTANCE: present invention relates to biotechnology, namely to an adeno-associated viral vector (hereinafter – AAV) used in gene therapy for the treatment of Friedreich’s ataxia. The adeno-associated viral vector (AAV) of expression contains nucleic acid that includes (i) a nucleic acid sequence encoding frataxin; (ii) a promotor of phosphoglycerate kinase (PGK), consisting of SEQ ID NO:1; and (iii) a woodchuck hepatitis virus posttranscriptional regulatory element (WPRE). (ii) and (iii) are functionally connected to the sequence (i) and control its expression. There is a functionally connected linker between (i) and (ii). The specified linker consists of SEQ ID NO: 6, and AAV vector is AAV vector of serotype 9. An adeno-associated viral (AAV) cloning vector is presented. A pharmaceutical composition for the treatment of Friedreich’s ataxia, containing effective amount of AAV vector is presented, as well as the use of AAV vector as a drug and in the treatment of Friedreich’s ataxia.

EFFECT: structure of AAV9 vector is capable of providing intermediate levels of frataxin in vitro and in vivo, which are more comparable with endogenous levels.

12 cl, 3 tbl, 11 dwg, 4 ex