Reports personalized allele-selective antisense oligonucleotide treatment in two patients with SCN2A-related developmental and epileptic encephalopathy, showing individualized clinical outcomes.
Key Takeaways
- Two n=1 individualized allele-selective ASO treatments reduced seizures by 26% and 90% respectively
- Both ASOs were well tolerated with no ASO-related serious adverse events reported
- Haplotype phasing found 16% of infants with SCN2A-related disorder carry compatible SNPs for allele-selective ASOs