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AssigneeErasmus University Medical Center Rotterdam
InventorWilhelmus Wenceslaus Matthias Pijnappel
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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.
A method for repairing aberrant splicing wherein such aberrant splicing causes Pompe disease, wherein such aberrant splicing is caused by the expression 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), wherein the Pompe disease is preferably characterized by the intervening sequence (IVS)1 mutation.
(canceled)
An antisense oligomeric compound (AON) targeting the sequence of SEQ ID NO:1, or any of the sequences of SEQ ID NOS:
(canceled)
A pair of AONs of which a first AON targets one of the sequences of SEQ ID NOS:
Dependencies are inferred from the claim text.