Background Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease that affects individuals with a broad age range and spectrum of disease severity. Risdiplam […]
Objective: Describe the changes in outcomes (healthcare conditions, services, costs, and care days) for patients with myotonic dystrophy compared with matched controls (MCs) two years […]
Background Disease-modifying treatments for patients with spinal muscular atrophy (SMA) that directly target the deficiency of survival of motor neuron (SMN) protein have been approved […]
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 With the expansion of newborn screening (NBS) panels in many countries, more babies are being identified with serious genetic disorders in a “pre-symptomatic” state […]
Objective: We sought to better understand outcomes in US children with SMA identified by NBS/prenatal screening versus those diagnosed clinically. Background: In SMA type 1, […]
Objective: We aimed to describe real-world outcomes in patients with spinal muscular atrophy (SMA) aged ?6 months at the time of onasemnogene abeparvovec (OA) infusion. […]
Objective: We sought to assess treatment patterns and long-term, real-world outcomes in patients with SMA in the context of expanding disease-modifying treatment options. Background: While […]
Background: Nusinersen clinical trial results have shown significant and clinically meaningful efficacy across SMA subtypes. A previous integrated safety analysis of five nusinersen trials in […]