Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease associated with progressive and often severe muscle weakness and atrophy and is a leading cause of death in infants [1-4]. SMA is caused by homozygous deletions ( ∼95% of SMA patients) or compound heterozygous mutations (∼5% of SMA patients) in the survival motor neuron 1 (SMN1) gene that prevent production of full-length functional SMN protein.[5] The paralogous gene SMN2 undergoes aberrant splicing and produces mostly truncated, dysfunctional protein (∼ 90%) [1].

Source: Neuromuscular Disorders - September 11, 2019 Category: Neurology Authors: Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, Wuh-Liang Hwu, Thomas O. Crawford, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Julie A. Parsons, Monique M. Ryan, Russell J. Butterfield, Haluk Topaloglu, Tawfeg Ben-Omran, Valeria A. Sanso Source Type: research