INTRATHECAL DELIVERY OF RECOMBINANT ADENO-ASSOCIATED VIRUS ENCODING METHYL-CPG-BINDING PROTEIN 2 Russian patent published in 2023 - IPC A61K48/00 C07K14/47 C12N7/00 

FIELD: biotechnology.

SUBSTANCE: adeno-associated viral vector (hereinafter – AAV) is presented for the expression of methyl-CpG-binding protein 2 (hereinafter – MECP2) for the treatment of Rett syndrome. The viral vector contains a gene cassette containing a promotor consisting of SEQ ID NO: 2, intron SV20, a polynucleotide sequence encoding methyl-CpG-binding protein 2 (MECP2), with a sequence SEQ ID NO: 3 and a synthetic polyadenylation signal. The gene cassette is flanked with a mutant inverted end repeat and an intact inverted end repeat of AAV2. A viral particle containing AAV vector, a pharmaceutical composition for the treatment of Rett syndrome, containing effective amount of AAV vector or viral particle, and a pharmaceutically acceptable carrier, are presented. A method for the treatment of Rett syndrome, the use of AAV vector, viral particle or pharmaceutical composition for the treatment of Rett syndrome in a patient, as well as a self-complementary adeno-associated virus of serotype 9 (scAAV9) for the expression of methyl-CpG-binding protein 2 (MECP2) for the treatment of Rett syndrome are presented.

EFFECT: invention allows for the delivery of MECP2 polynucleotides to the central nervous system and the expression in it of such polynucleotides to create a remedy for the treatment of Rett syndrome.

22 cl, 3 tbl, 21 dwg, 8 ex