Patent ID: 11963974
Assignee: NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT
Field: Pharmaceuticals (Chemistry)
Classification: CPC A  C | IPC A  C

Claim 0:
1. A method for treating glycogen storage disease type Ia in a subject, comprising administering to the subject a therapeutically effective amount of an antisense oligonucleotide,
wherein the antisense oligonucleotide is capable of hybridizing with a pre-mRNA sequence of c.648G>T variant G6PC gene at a region (hybridizing region) including at least one of the following base in a base sequences of human chromosome 17 of GRCh38/hg38:
a base at position 42911000 (which corresponds to position 648 in cDNA sequence of c.648G>T variant G6PC, the cDNA sequence being a base sequence shown in SEQ ID NO: 4 in which guanine (G) at position 648 is substituted by thymine (T)),
a base at position 42911004 (which corresponds to position 652 in cDNA sequence of c.648G>T variant G6PC, the cDNA sequence being a base sequence shown in SEQ ID NO: 4 in which guanine (G) at position 648 is substituted by thymine (T)), and
a base at position 42911005 (which corresponds to position 653 in cDNA sequence of c.648G>T variant G6PC, the cDNA sequence being a base sequence shown in SEQ ID NO: 4 in which guanine (G) at position 648 is substituted by thymine (T)),
wherein the antisense oligonucleotide is capable of inhibiting aberrant splicing of pre-mRNA of c.648G>T variant G6PC,
wherein the antisense oligonucleotide is a single-strand nucleotide made up of 7 to 104 bases consisting of a base sequence completely complementary to the hybridizing region in the pre-mRNA of c.648G>T variant G6PC gene.