Gene therapy for spinal muscular atropy

Gene therapy has been an exciting development; once a theoretical dream, it is now, reality. The Archivist has been following the progress of this intervention and now seen patients who have received this ‘miraculous’ therapy. We know that spinal muscular atrophy (type 1) (SMA) is a devastating lethal motor neuron disease where the need for permanent ventilation is expected by age 2 years. Day JW et al. [Lancet Neurol 2021;20:284–93] have reported the findings the of STR1VE, an open label, single arm phase-3 study, recruiting 22 patients with infantile onset SMA. The authors evaluated the safety and efficacy of onasemnogene abeparvovec (previously known as AVXS-101), a gene therapy delivering the survival motor neuron gene (SMN), in symptomatic patients with infantile-onset spinal muscular atrophy. These infants received a one-time intravenous infusion of the therapy. After initial follow ups they were see once per month until the end of the study...

from Archives of Disease in Childhood current issue https://ift.tt/3n8E2v5