Core Viewpoint - The recent research on "AAV9-mediated gene therapy for infantile Pompe disease" led by Professor Feng Zhichun represents a significant breakthrough in treating this rare genetic disorder, potentially offering a "one-shot cure" solution for patients [1][5]. Group 1: Disease Overview - Pompe disease, also known as Glycogen Storage Disease Type II, is a rare autosomal recessive disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to glycogen accumulation in lysosomes, particularly affecting skeletal, cardiac, and smooth muscles [2][3]. - The infantile form of Pompe disease progresses rapidly, often resulting in heart failure and respiratory failure by the age of one if untreated [2]. Group 2: Current Treatment Limitations - Enzyme replacement therapy (ERT) has been the primary treatment since its introduction in 2006, significantly reducing mortality rates and improving quality of life for some patients; however, it does not penetrate the blood-brain barrier and has limitations in addressing central nervous system involvement [3][4]. - ERT requires bi-weekly administration and can be costly, with some patients developing antibodies that reduce treatment efficacy or cause allergic reactions [3]. Group 3: Gene Therapy Development - The newly developed GC301 injection, utilizing AAV9 as a vector to deliver a codon-optimized human GAA gene, aims to provide a long-lasting solution by correcting the genetic defect and restoring GAA enzyme synthesis [4][5]. - Initial trials with four infants showed promising results, with three achieving significant developmental milestones and improvements in cardiac function within a 52-week observation period [5]. Group 4: Safety and Future Directions - Preliminary findings indicate that GC301 is safe, with no severe immune-related adverse reactions reported; however, ongoing assessments are necessary to evaluate long-term safety and efficacy [6]. - Future research may explore the application of GC301 in late-onset Pompe disease and the development of personalized treatment plans based on different genotypes [7].