Antisense oligomers for treatment of conditions and diseases
AssigneeStoke Therapeutics, Inc.
InventorIsabel Aznarez
Life of this patent
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Abstract
Alternative splicing events in SCN1A gene can lead to non-productive mRNA transcripts which in turn can lead to aberrant protein expression, and therapeutic agents which can target the alternative splicing events in SCN1A gene can modulate the expression level of functional proteins in Dravet Syndrome patients and/or inhibit aberrant protein expression. Such therapeutic agents can be used to treat a condition caused by SCN1A, SCN8A or SCN5A protein deficiency.
Claims21
1-32. (canceled)
A pharmaceutical composition comprising a therapeutic agent or a vector encoding the therapeutic agent, wherein the therapeutic agent binds to a targeted portion of a pre-mRNA that contains a nonsense mediated RNA decay-inducing exon (NMD exon) and that encodes a target protein, whereby the therapeutic agent modulates exclusion of the NMD exon from the pre-mRNA encoding the target protein, thereby modulating a level of processed mRNA encoding the target protein, and wherein the targeted portion is:
- from about 1,000 nucleotides upstream from the 5′ end of the NMD exon to about 100 nucleotides upstream of the 5′ end of the NMD exon;
- or
- from about 100 nucleotides downstream of the 3′ end of the NMD exon to about 1,000 nucleotides downstream of the 3′ end of the NMD exon.
An antisense oligomer (ASO) comprising a sequence that is at least 80%, identical to any one of SEQ ID NOs:
- 12-731.
Dependencies are inferred from the claim text.