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Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births.
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Patients with infantile-onset spinal muscular atrophy (SMA), a rare, genetic neuromuscular disease, do not achieve key motor function milestones (e.g., sitting) and have short life expectancy in the absence of treatment. Nusinersen is a disease-modifying therapy for patients with SMA. The aim of this study was to estimate the cost-effectiveness of nusinersen compared to best supportive care.
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Spinal muscular atrophy (SMA) is a neurodegenerative disease associated with severe muscle atrophy and weakness in the limbs and trunk. We report interim efficacy and safety outcomes as of March 29, 2019 in 25 children with genetically diagnosed SMA who first received nusinersen in infancy while presymptomatic in the ongoing Phase 2, multisite, open-label, single-arm NURTURE trial.
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Introduction. Spinal muscular atrophy (SMA) is an autosomal recessive, inherited genetic disease characterized by degeneration of alpha motor neurons in the spinal cord.1 It is the most common genetic cause of child mortality and has long been considered an incurable disease. The incidence is approximately 1 in 10,000 live births.2,3 It is linked to a homozygous deletion of the SMN1 gene.
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