GENE THERAPY FOR THE TREATMENT OF HEMOPHILIA A Russian patent published in 2021 - IPC A61K48/00 C12N15/86 C07K14/755 

FIELD: biotechnology.

SUBSTANCE: recombinant adeno associated virus (hereinafter – rAAV) for delivery a human factor VIII gene to a patient is described, containing capsid AAV and a vector genome packed in it, while the specified vector genome contains: (a) AAV with 5' inverted terminal repeat (hereinafter – ITR); (b) a liver-specific promoter; (c) an encoding sequence encoding a human factor VIII providing a coagulation function; and (d) 3' ITR AAV, wherein the specified encoding sequence contains a nucleotide sequence represented in SEQ ID NO: 2 or a sequence identical to it for at least 95%. rAAV virus for delivery of a human factor VIII gene to a patient is presented, containing capsid AAVhu37 and a vector genome packed in it, while the specified vector genome contains: (a) AAV sequence with 5' inverted terminal repeat (ITR); (b) a transthyretin (TTR) promoter; (c) a transthyretin enhancer (enTTR); (d) an encoding sequence encoding a human factor VIII providing a coagulation function; and (e) 3' ITR AAV sequence, wherein the specified encoding sequence contains a nucleotide sequence represented in SEQ ID NO: 2. An aqueous suspension suitable for injecting to a patient with hemophilia A is also described, wherein the specified suspension contains aqueous suspending liquid and from about 1 x 10¹² genomic copies (hereinafter – GC)/ml to about 1 x 10¹⁴ GC/ml of rAAV virus. Nucleic acid encoding a human factor VIII providing a coagulation function is also presented, wherein the specified nucleic acid contains a nucleotide sequence represented in SEQ ID NO: 2 or a sequence identical to it for at least 95%.

EFFECT: invention expands the arsenal of means for the treatment of hemophilia A.

22 cl, 25 dwg, 4 tbl, 3 ex