Erik VAN DER WAL,Atze Jacobus BERGSMA,Wilhelmus Wenceslaus Matthias PIJNAPPEL,Antje Tjitske VAN DER PLOEG
申请号：
US16622670
公开号：
US20200138846A1
申请日:
2018.06.14
申请国别(地区):
US
年份:
2020
代理人:
摘要：
The invention relates to method for repairing aberrant； splicing, wherein such aberrant: splicing is caused by the presence 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 NO: 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 NO: 1 and a second targeting AON or SEQ ID NO: 171. These AONs are specifically for use in the treatment of Pompe disease. It is an aspect of the invention that antisense therapy using the above AONs or combinations thereof is used in combination with ERT.
