Enzymatic replacement therapy and antisense therapy for Pompe Disease.

摘要

The invention relates to method for repairing aberrant splicing, wherein such aberrant splicing is caused by the pressence of a natural pseudo exon, 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 N0:1 or SEQ ID NO: 171, preferably selected from the sequences of SEQ ID NO: 267-2040, sequences that are complementary to said sequences or sequences that have an identity of 80% with said sequences or the complementary sequences. The invention further envisages the use of two antisense oligomeric compounds, a first AON targeting SEQ ID N0:1 and a second targeting AON or SEQ ID NO: 171. These AONs are specifically for use in the treatment ofPompe disease. It is an aspect of the invention that antisense therapy using the above AONs or combinations thereof is used in combination with ERT.