Gene Therapy Offers Benefit for Young Children with Spinal Muscular Atrophy

Of 19 children <2 years old with non–end-stage type 1 SMA who received a single dose of SMN1 gene replacement therapy, all had stabilization or improvement in function.

Spinal muscular atrophy (SMA) type 1 is a devastating condition caused by absence of the SMN1 gene. SMN1 gene replacement therapy, using onasemnogene abeparvovec-xioi with an AAV-9 vector, was approved in 2019 for patients with SMA aged <2 years; however, data for patients aged >8 months are limited. In a retrospective review of SMN1 therapy in 21 children aged 1 to 23 months (mean, 10 months) at 4 Ohio hospitals, researchers assessed complications and outcomes at 15 to 20 weeks.

All patients were immunosuppressed with prednisolone therapy for 4 to 13.5 weeks. Five children were discovered by neonatal screening and were presymptomatic; the remaining 16 were symptomatic but did not have end-stage disease. Among 19 patients who completed two f…

Reviewing Author

F. Bruder Stapleton, MD

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Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

Gene Therapy Offers Benefit for Young Children with Spinal Muscular Atrophy

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Reviewing Author