COMPOSITIONS AND METHODS FOR MODULATION OF SMN2 SPLICING IN A SUBJECT Russian patent published in 2023 - IPC A61K48/00 

FIELD: medicine; molecular biology.

SUBSTANCE: invention relates to the field of medicine and molecular biology, to biotechnology. Describes the use of an antisense compound in the manufacture of a drug to enhance incorporation of exon 7 into mRNA (matrix ribonucleic acid) transcripts of the survival motor neuron 2 (SMN2) gene in a human subject characterized by the loss of both functional copies of the transcript of the survival motor neuron 1 (SMN1) gene, where the antisense the compound is administered by bolus injection into the intrathecal space of a human subject, wherein the antisense compound contains an antisense oligonucleotide, consisting of 18 linked nucleosides, where the oligonucleotide has a nucleic sequence consisting of the nucleic sequence of SEQ ID NO: 1, where each internucleoside bond of the oligonucleotide is a phosphorothioate bond, where each nucleoside of the oligonucleotide is a 2'-O-methoxyethyl nucleoside. Also described is the use of an antisense compound in the manufacture of a drug to enhance incorporation of exon 7 into mRNA (messenger ribonucleic acid) human survival motor neuron 2 (SMN2) gene transcripts in a human subject having mutations in the survival gene. motor neurons 1 (SMN1), which result in a functional deficiency of the SMN protein, wherein the antisense compound is administered by bolus injection into the intrathecal space of a human subject, and wherein the antisense compound comprises an antisense oligonucleotide consisting of 18 linked nucleosides, wherein the oligonucleotide has a nucleic sequence consisting of from the nucleic sequence of SEQ ID NO: 1, where each internucleoside bond of the oligonucleotide is a phosphorothioate bond, where each nucleoside of the oligonucleotide is a 2'-O-methoxyethyl nucleoside.

EFFECT: invention expands the arsenal of agents for the treatment of spinal muscular atrophy (SMA).

11 cl, 13 dwg, 14 tbl, 14 ex