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<p>In recent years, the treatment of neuromuscular disorders has undergone a&#xa0;fundamental transformation due to innovative gene and immunotherapies. Gene therapies—including gene replacement, antisense oligonucleotides (ASO), small molecules, and RNA interference (RNAi)—enable targeted correction of genetic defects. Major progress has been made in spinal muscular atrophy (SMA): onasemnogene abeparvovec replaces the SMN1 gene, while nusinersen and risdiplam modify SMN2 gene splicing. Similar strategies are applied in Duchenne muscular dystrophy (exon skipping with eteplirsen) and hereditary transthyretin amyloidosis (ATTRv) using ASOs (e.g., eplontersen) or siRNAs (e.g., vutrisiran). For SOD1-associated amyotrophic lateral sclerosis (ALS), tofersen offers a&#xa0;targeted therapeutic option. Immunotherapies, particularly FcRn inhibitors (efgartigimod, rozanolixizumab and nipocalimab) and complement inhibitors (eculizumab, ravulizumab, and zilucoplan), have revolutionized the management of myasthenia gravis by selectively reducing pathogenic autoantibodies or inhibiting complement activation. New approaches such as CRISPR/Cas genome editing and CAR-T/CAAR-T&#xa0;cell therapies show promising results in case series, especially for autoimmune diseases like myasthenia gravis and myositis. These advances mark the beginning of a&#xa0;new era in the therapy of neuromuscular diseases. However, these high-priced treatments might pose a&#xa0;challenge for healthcare systems.</p>

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Neue Therapieformen für neuromuskuläre Erkrankungen

  • 期刊论文

  • 发表日期：

    2025年7月9日

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  • Vera Kleinveld,
  • Wolfgang Löscher

摘要

In recent years, the treatment of neuromuscular disorders has undergone a fundamental transformation due to innovative gene and immunotherapies. Gene therapies—including gene replacement, antisense oligonucleotides (ASO), small molecules, and RNA interference (RNAi)—enable targeted correction of genetic defects. Major progress has been made in spinal muscular atrophy (SMA): onasemnogene abeparvovec replaces the SMN1 gene, while nusinersen and risdiplam modify SMN2 gene splicing. Similar strategies are applied in Duchenne muscular dystrophy (exon skipping with eteplirsen) and hereditary transthyretin amyloidosis (ATTRv) using ASOs (e.g., eplontersen) or siRNAs (e.g., vutrisiran). For SOD1-associated amyotrophic lateral sclerosis (ALS), tofersen offers a targeted therapeutic option. Immunotherapies, particularly FcRn inhibitors (efgartigimod, rozanolixizumab and nipocalimab) and complement inhibitors (eculizumab, ravulizumab, and zilucoplan), have revolutionized the management of myasthenia gravis by selectively reducing pathogenic autoantibodies or inhibiting complement activation. New approaches such as CRISPR/Cas genome editing and CAR-T/CAAR-T cell therapies show promising results in case series, especially for autoimmune diseases like myasthenia gravis and myositis. These advances mark the beginning of a new era in the therapy of neuromuscular diseases. However, these high-priced treatments might pose a challenge for healthcare systems.