who had one or two copies of the SMN2 backup gene, or two copies of the SMN2 backup gene, respectively.

The antisense oligonucleotide works by modulating alternative splicing of the SMN2 exon which is mutated in the disease. This is however "laborious, slow and costly", according to the biopharma.

840C > T conversion and variable numbers of SMN2 copies. Infants with clinical symptoms and genetic confirmation of SMA comprise class 2, and infants with SMA symptoms but no genetic evidence comprise ...

Nusinersen and risdiplam enhance SMN protein production from the SMN2 gene. Standardized assessment tools have limitations at both ends of the functional spectrum. Notable Insights ...