PRODUCING ACTIVE HIGHLY PHOSPHORYLATED HUMAN LYSOSOMAL SULPHATASE ENZYMES AND USE THEREOF Russian patent published in 2014 - IPC C12N9/24 C12P21/00 A61K38/46 

FIELD: chemistry.

SUBSTANCE: invention relates to biotechnology. Disclosed is a purified preparation of recombinant human N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, where said enzyme includes an amino acid sequence which is at least 95% identical to amino acids 27-522 SEQ ID NO:4, which is suitable for treating a subject suffering from a lysosomal storage disease associated with GALNS, where: (a) said GALNS enzyme preparation has purity of at least about 95% as determined by Coomassie Blue staining when subjected to SDS-PAGE under non-reducing conditions; and (b) the cysteine residue at position 79 of at least 50% of molecules of the GALNS enzyme in said GALNS enzyme preparation is converted to C_α-formylglycine (FGly); where said GALNS enzyme is N-linked glycosylated at the asparagine residues at positions 204 and 423, wherein at least about 50% of the oligomannose chains attached to the asparagine residue at position 204 are bis-phosphorylated. Disclosed is a method of treating a subject suffering from mucopolysaccharidosis type IVa (MPS IVa), Morquio A syndrome or multiple sulfatase deficiency (MSD), which involves administering a therapeutically effective amount of said purified preparation of recombinant human GALNS to the subject.

EFFECT: invention enables to obtain a pharmaceutical preparation of recombinant highly phosphorylated human GALNS, having a high content of molecules with a cysteine residue at position 79 converted to C_α-formylglycine, owing to which it is highly absorbed through the mannose-6-phosphate receptor (MPR) and has high activity.

29 cl, 13 dwg, 15 tbl, 11 ex