ENZYMATIC REPLACEMENT THERAPY WITH DOSE INCREASE FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY Russian patent published in 2020 - IPC A61K38/43 A61P3/06 

FIELD: medicine; enzymatic replacement therapy.

SUBSTANCE: group of inventions is intended for treating acid sphingomyelinase (ASMD) deficiency. A method of treating ASMD involves: a. dose increase circuit including i. administering to a human subject, in need thereof, dose of 0.1 mg/kg of human recombinant acid sphingomyelinase (rhASM) to said human subject; and ii. introduction of subsequent higher doses of rhASM to said human subject, if said human subject does not exhibit one or more moderate or severe adverse events, where higher doses range from 0.1 mg/kg to 0.5 mg/kg, or 0.1 mg/kg to 1.0 mg/kg, or 0.5 mg/kg to 2 mg/kg above the previous dose; and b. a supporting regimen comprising administering a maintenance dose of 1, 2, or 3 mg/kg of rhASM to said human subject. Also provided are therapeutic options for ASMD, including alternative regimens for dose increase of rhASM.

EFFECT: using the group of inventions enables providing higher clinical effectiveness in acidic sphingomyelinase deficiency.

49 cl, 9 tbl, 7 dwg, 4 ex