Patent ID: 10696967

Abstract:
The invention relates to a method for repairing aberrant splicing in Pompe patients that carry the IVS1 variant, wherein such aberrant splicing is caused by the expression of a natural pseudo exon present in GAA intron 1, comprising blocking of either the natural cryptic 3′ splice site or the natural cryptic 5′ splice site of said natural pseudo exon with an antisense oligomeric compound (AON). Further, the invention comprises an antisense oligomeric compound targeting SEQ ID NO: 1 or SEQ ID NO: 180, preferably selected from the sequences of SEQ ID NO: 91-179, sequences that are complementary to said sequences or sequences that have an identity of 80% with said sequences or the complementary sequences and a second AON from the sequences of SEQ ID NO: 346-508, sequences that are complementary to said sequences or sequences that have an identity of 80% with said sequences or the complementary sequences.