Neurologic orphan diseases: Emerging innovations and role for genetic treatments

Figure 1 Emerging gene editing treatment options for spinal muscular atrophy. Risdiplam and Branaplam are oral medications which can cross the blood-brain barrier and increase the number of spinal muscular atrophy (SMA) full length proteins by targeting the SMN2 gene. For patients that require replacement of the SMA1 gene, Zolgensma is an intravenous medication that uses an adeno-associated viral vector to deliver a functional copy of the gene. Clinical trials in patients treated with Zolgensma have shown positive outcomes. SMA: Spinal muscular atrophy.