To the editor:Spinal muscular atrophy(SMA)is a severe autosomal recessive neuromuscular disorder with an incidence of approximately one in 10000 live births.Patients exhibit progressive muscle weakness and atrophy,wit...To the editor:Spinal muscular atrophy(SMA)is a severe autosomal recessive neuromuscular disorder with an incidence of approximately one in 10000 live births.Patients exhibit progressive muscle weakness and atrophy,with the most severe type 1 cases often leading to mortality before the age of 2 years.The advent of disease-modifying therapies(DMTs)has altered the natural history of SMA,and multiple real-world cohort studies have revealed the benefit of early access to disease-modifying therapies,1,2 thus necessitating new management strategies for evolving patient needs.Two DMTs,nusinersen(SPINRAZA)and risdiplam(EVRYSDI)have been approved for use in China.Specifically,the oral dispersible formulation of risdiplam is indicated for the treatment of SMA patients aged 16 days and older in China,while it has been approved by the Food and Drug Administration for use in patients of all ages in the United States since 2022.On the other hand,local pilot studies on SMA newborn screening(NBS)are also being conducted in China.展开更多
基金supported by the Cyrus Tang Foundation through the project“Early Identification and Intensive Management of Severe Neurogenetic Diseases Affecting Children’s Physical and Mental Health”
文摘To the editor:Spinal muscular atrophy(SMA)is a severe autosomal recessive neuromuscular disorder with an incidence of approximately one in 10000 live births.Patients exhibit progressive muscle weakness and atrophy,with the most severe type 1 cases often leading to mortality before the age of 2 years.The advent of disease-modifying therapies(DMTs)has altered the natural history of SMA,and multiple real-world cohort studies have revealed the benefit of early access to disease-modifying therapies,1,2 thus necessitating new management strategies for evolving patient needs.Two DMTs,nusinersen(SPINRAZA)and risdiplam(EVRYSDI)have been approved for use in China.Specifically,the oral dispersible formulation of risdiplam is indicated for the treatment of SMA patients aged 16 days and older in China,while it has been approved by the Food and Drug Administration for use in patients of all ages in the United States since 2022.On the other hand,local pilot studies on SMA newborn screening(NBS)are also being conducted in China.
