Background: Patients with spinal muscular atrophy (SMA) Types I or II experience deterioration of swallowing function and high levels of bulbar comorbidities such as risk […]
Objective: Develop an optimized whole-body MRI protocol and composite analysis that correlates with clinical outcome assessments in Facioscapulohumeral Muscular Dystrophy (FSHD). Background: Functional assessments show […]
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: Edasalonexent is an oral NF-κB inhibitor developed for Duchenne muscular dystrophy (DMD). Objectives: The Phase 3 PolarisDMD trial was a 52-week randomized, double-blind, placebo-controlled […]
Giant Axonal Neuropathy (GAN) is an ultra-rare childhood onset neurodegenerative disorder of the peripheral and central nervous system. Recessive GAN mutations cause loss of function […]
Background: SMA is a rare, debilitating neuromuscular condition that is often fatal before 2 years of age if untreated. Treatments are now available that profoundly […]
Background: Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that lead to severe reductions in the dystrophin protein, which is critical […]
Background: Acetylcholine receptor antibody-positive generalized myasthenia gravis (AChR+ gMG) and aquaporin-4 immunoglobulin G-positive neuromyelitis optica spectrum disorder (AQP4+ NMOSD) are complement-mediated autoimmune diseases. Eculizumab (terminal […]
Background: Limb-girdle muscular dystrophy type 2E (LGMD2E) is caused by mutations in the β-sarcoglycan (SGCB) gene that result in loss of functional protein affecting other […]