Background: Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease caused by reduced levels of survival of motor neuron (SMN) protein due to deletions […]
Background: In the Phase I trial (START; NCT02122952), SMA type 1 patients who received a one-time high-dose (proposed therapeutic dose) infusion (n=12) demonstrated significantly improved […]
Background: Extensive clinical variability has been observed in Becker muscular dystrophy (BMD), both in time of first symptom onset and progression. Understanding causes behind this […]
Background: Disease-modifying treatments for SMA have dramatically improved prognoses for children afflicted with this debilitating neurodegenerative condition. Timely intervention is critical for preservation of motor […]
Background: Nusinersen is an antisense oligonucleotide that has shown significant and clinically meaningful efficacy on motor function and survival endpoints across a broad spectrum of […]
Background: SMA causes loss of motor/respiratory function due to survival motor neuron 1 (SMN1) deletion/mutation. Copies of SMN2 modify disease severity. Approximately 97% of patients […]
Background: SMA causes loss of motor/respiratory function due to survival motor neuron 1 (SMN1) deletion/mutation. Copies of SMN2 modify disease severity. A range of phenotypes […]
Background: Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease caused by reduced levels of survival of motor neuron (SMN) protein due to deletions […]
Background: Identification of reliable predictors of response to disease modifying therapies in SMA is important to support and improve patient management. Objectives: To identify predictive […]