Therapeutic advances in neuromuscular diseases in 2023

Many of the almost 1000 different neuromuscular diseases are hereditary, and development of next-generation sequencing has been important for improving diagnosis and understanding the underlying pathophysiology of these diseases. Various treatments have emerged from using this approach, including antisense oligonucleotide correction of SMN2 splicing and gene therapy for spinal muscular atrophy, and therapies directed at mutations in the SOD1 gene for amyotrophic lateral sclerosis. For myasthenia gravis, several drugs have been developed against new targets, such as inhibitors of the neonatal Fc receptor and complement C5. These new drugs—including rozanolixizumab 1 Bril V Drużdż A Grosskreutz J et al. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study. Lancet Neurol. 2023; 22: 383-394 Summary Full Text Full Text PDF PubMed Scopus (16) Google Scholar and zilucoplan, 2 Howard Jr, JF Bresch S Genge A et al. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study. Lancet Neurol. 2023; 22: 395-406 Summary Full Text Full Text PDF PubMed Scopus (15) Google Scholar for which initial findings were reported in 2023—provide a quicker clinical response and more selective effect on the immune system than do drugs in current use. Other drug targets are also being explored in myasthenia gravis, including inhibition of IL-6, modified B-cell depletion, and immune-tolerising approaches.