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Pompe disease is a lysosomal storage disorder caused by deficient acid alpha-glucosidase activity, with infantile-onset disease often producing severe cardiac and skeletal muscle involvement. A systematic review and meta-analysis evaluated prospective studies of alglucosidase alfa enzyme replacement therapy in infantile-onset Pompe disease. Across the available evidence, treatment was associated with improved left ventricular mass, delayed need for ventilatory support and substantially better survival compared with the natural history of untreated disease. The review also emphasised limitations: the available studies were heterogeneous, most were not randomized and certainty of evidence varied by outcome. Nevertheless, the magnitude of benefit in key survival outcomes is clinically meaningful. For HCPs, the paper reinforces the importance of early diagnosis and timely treatment because irreversible cardiac and respiratory damage can develop rapidly. Long-term multidisciplinary care remains necessary even after enzyme therapy begins. The findings fit IANCON's discussion of adult-onset Pompe disease and the broader principle of recognising treatable neuromuscular disorders before they are misclassified as nonspecific weakness or respiratory disease.
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Pompe disease is a lysosomal storage disorder caused by deficient acid alpha-glucosidase activity, with infantile-onset disease often producing severe cardiac and skeletal muscle involvement. A systematic review and meta-analysis evaluated prospective studies of alglucosidase alfa enzyme replacement therapy in infantile-onset Pompe disease. Across the available evidence, treatment was associated with improved left ventricular mass, delayed need for ventilatory support and substantially better survival compared with the natural history of untreated disease. The review also emphasised limitations: the available studies were heterogeneous, most were not randomized and certainty of evidence varied by outcome. Nevertheless, the magnitude of benefit in key survival outcomes is clinically meaningful. For HCPs, the paper reinforces the importance of early diagnosis and timely treatment because irreversible cardiac and respiratory damage can develop rapidly. Long-term multidisciplinary care remains necessary even after enzyme therapy begins. The findings fit IANCON's discussion of adult-onset Pompe disease and the broader principle of recognising treatable neuromuscular disorders before they are misclassified as nonspecific weakness or respiratory disease.
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