Spinal muscular atrophy (SMA) treatment via targeting of SMN2 splice site inhibitory sequences
US9476042B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Oct 15, 2013 |
| Grant date | Oct 25, 2016 |
| Priority date | — |
| Expiry date | Oct 15, 2033 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG01N2800/28
- WIPO fieldMeasurement
- WIPO sectorInstruments
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 “intronic splicing silencer”), 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).
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.