.webp&w=384&q=75){kind=logo}
Loading, please wait...
Loading, please wait...
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.
Read summarized clinical updates, watch expert medical content, and earn CME certifications right from your smartphone.
Open your smartphone camera to scan and install.
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.
4 weeks back
Discover how catalytic nanozymes redefine autoimmune disease therapy by establishing a physiological redox set-point to restore immune tolerance without broad immunosuppression.
Last week
Recent research reveals that downregulating YAP1/TAZ-TEAD via Hippo signaling triggers spontaneous human trophoblast syncytialization in 3D cultures, illuminating placental biology and preeclampsia.
3 weeks back
A landmark comparative study evaluates atrial electrophysiology across humans, swine, and rodents. By linking cellular recordings with transcriptomics and in silico modeling, researchers resolve cross-species gaps, explaining translational failures to advance targeted therapies for atrial arrhythmias.
3 weeks back
A novel pathology-adaptive surface engineering strategy uses functionalized plasma polymer coatings to selectively modulate AGE adsorption, reducing oxidative stress and restoring bone formation in diabetic and aging microenvironments.
last month
Researchers have developed an innovative ultrasound-responsive nano-contrast agent that co-delivers CIITA-siRNA and rapamycin directly to inflamed thyroid tissue, significantly reducing autoimmune injury and thyroid autoantibodies in preclinical models of Hashimoto thyroiditis.
3 weeks back
