Gene therapy in hereditary neuromuscular diseases

      Childhood neuromuscular disorders are devastating conditions associated with major disability and shortened life span. They encompass common muscular dystrophies such as Duchenne muscular dystrophy (DMD); motorneuron diseases such as spinal muscular atrophy (SMA), and less common limb girdle muscular dystrophies and congenital myopathies. Each of these conditions presents its own therapeutic challenges. The major hurdle in muscular dystrophies is the abundance of the target organ (skeletal muscle is ~40% of the body weight), the need to target the heart and, in DMD, the large size of its cDNA that precludes its packaging in commonly used viral vectors. For SMA1, one of the challenges is the need to target all motorneurons, and the short window for therapeutic intervention in this rapidly progressive condition. In myotubular myopathy, the profound severity and rarity of affected children complicates the design and execution of clinical trials. The therapeutic landscape is however changing very rapidly, following landmark studies and global approval of one AAV for SMA, and several ongoing trials on DMD.
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