US7838657 — Spinal muscular atrophy (SMA) treatment via targeting of SMN2 splice site inhibitory sequences
Composition of Matter · Assigned to University of Massachusetts Amherst · Expires 2027-07-11 · 1y remaining
What this patent protects
This patent protects methods and compositions that block an inhibitory sequence in the SMN2 gene to modulate the splicing of pre-mRNA and elevate SMN protein expression.
USPTO Abstract
The present invention is directed to methods and compositions capable of blocking the inhibitory effect of a newly-identified intronic inhibitory sequence element, named ISS-N1 (for âintronic splicing silencerâ), located in the SMN2 gene. The compositions and methods of the instant invention include oligonucleotide reagents (e.g., oligoribonucleotides) that effectively target the SMN2 ISS-N1 site in the SMN2 pre-mRNA, thereby modulating the splicing of SMN2 pre-mRNA to include exon 7 in the processed transcript. The ISS-N1 blocking agents of the invention cause elevated expression of SMN protein, thus compensating for the loss of SMN protein expression commonly observed in subjects with spinal muscular atrophy (SMA).
Drugs covered by this patent
Bibliographic data sourced from FDA Orange Book + USPTO public records. Plain-English summary generated by AI grounded in source text. Patent term extensions (PTR, SPC, pediatric) may shift the effective expiry. Not legal advice.
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