Why the study?
Several molecular mechanisms have been investigated to improve SMN2 functional splicing to overcome the genetic deficit in SMN1 causing spinal muscular atrophy.
Nusinersen and risdiplam represent a paradigm shift in drug development for genetic diseases by successfully targeting RNA splicing mechanisms to treat spinal muscular atrophy.
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Novel SMA splicing modulators merit cautious exploration; leaves open clinical translation pending confirmatory trials.
Torroba et al. (2022) studied this question.
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