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Late-onset Pompe disease requires long-term treatment decisions that are more nuanced than simply prescribing enzyme replacement therapy indefinitely. The 2024 European Pompe Consortium update provides consensus criteria for starting, switching and stopping enzyme replacement therapy. Treatment initiation is recommended for symptomatic patients with skeletal muscle weakness or respiratory involvement, while muscle MRI findings may support individual decisions. The guidance also addresses switching treatment when patients fail to stabilise or improve after adequate exposure to standard enzyme replacement or when severe infusion reactions occur. The recommendations recognise that evidence for long-term treatment strategies remains incomplete and that clinical response needs to be assessed over time. For HCPs, the practical message is to measure function systematically rather than relying on subjective impressions. Respiratory assessments, mobility, muscle imaging and patient-reported function all contribute to treatment decisions. The guideline also supports personalised discussions about expectations, as enzyme replacement may stabilise or slow decline rather than restore normal muscle function. This is directly relevant to IANCON's focus on adult-onset Pompe phenotypes and expanding treatment options for neuromuscular disease.
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Late-onset Pompe disease requires long-term treatment decisions that are more nuanced than simply prescribing enzyme replacement therapy indefinitely. The 2024 European Pompe Consortium update provides consensus criteria for starting, switching and stopping enzyme replacement therapy. Treatment initiation is recommended for symptomatic patients with skeletal muscle weakness or respiratory involvement, while muscle MRI findings may support individual decisions. The guidance also addresses switching treatment when patients fail to stabilise or improve after adequate exposure to standard enzyme replacement or when severe infusion reactions occur. The recommendations recognise that evidence for long-term treatment strategies remains incomplete and that clinical response needs to be assessed over time. For HCPs, the practical message is to measure function systematically rather than relying on subjective impressions. Respiratory assessments, mobility, muscle imaging and patient-reported function all contribute to treatment decisions. The guideline also supports personalised discussions about expectations, as enzyme replacement may stabilise or slow decline rather than restore normal muscle function. This is directly relevant to IANCON's focus on adult-onset Pompe phenotypes and expanding treatment options for neuromuscular disease.
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