Treatment of spinal muscular atrophy with onasemnogene abeparvovec: off-label case report and follow-up protocol proposal

Case presentation: Male patient whose hypotonia was observed around 2 months-old. He diagnosed with Spinal Muscular Atrophy (SMA) when he 4 months-old - heterozygous deletion of the SMN1 gene (1 copy exon 7 and 8), copies SMN2 (2 8 8). In SMN1, a p.Pro246Thrfs*10 variant is observed, characterizing compound heterozygosity. This always had has an excellent multidisciplinary follow-up – motor respiratory physiotherapy, speech therapy, occupational several times per week. periodicaly evaluated by pediatrician, child neurologist, orthopedist, pulmonologist nutritionist. uses BIPAP gastrostomy to supplement oral feeding. never been hospitalized for or other complications, only elective gastrostomy. begun treatment nusinersene months-old, having applied 12 doses. The last dose at 3 years 5 At 6 onasemnogene abeparvovec application. evolved increase in hepatic transaminases required corticosteroid therapy 19 weeks. general terms, good evolution, but, apparently, increased speed gaining points on CHOP INTEND scale after application therapy. also improved his ventilometry. addition, able feed more quickly, better handling accumulation saliva mouth less interrupted presents audible tone.