Prenatal Enzyme-Replacement Therapy

This editorial examines the pioneering application of in utero enzyme replacement therapy (ERT) for infantile

 onset Pompe’s disease, a severe lysosomal storage disorder. The article highlights a landmark case where prenatal ERT, administered via the umbilical vein starting at 24 weeks of gestation, successfully prevented characteristic disease manifestations (e.g., cardiac hypertrophy) and enabled the achievement of normal developmental milestones, including independent walking by 11.5 months. The author elucidates the scientific basis of ERT, emphasizing the critical role of mannose 6 phosphate receptors in delivering recombinant enzymes to lysosomes, while addressing challenges such as immune responses and tissue specific accessibility. Although the results are promising, long term follow up and ongoing clinical trials will determine the full potential of prenatal ERT to mitigate neurological and systemic complications in lysosomal disorders. The editorial underscores the transformative potential of this approach while calling for further research to optimize therapeutic protocols.

This editorial examines the pioneering application of in utero enzyme replacement therapy (ERT) for infantile

 onset Pompe’s disease, a severe lysosomal storage disorder. The article highlights a landmark case where prenatal ERT, administered via the umbilical vein starting at 24 weeks of gestation, successfully prevented characteristic disease manifestations (e.g., cardiac hypertrophy) and enabled the achievement of normal developmental milestones, including independent walking by 11.5 months. The author elucidates the scientific basis of ERT, emphasizing the critical role of mannose 6 phosphate receptors in delivering recombinant enzymes to lysosomes, while addressing challenges such as immune responses and tissue specific accessibility. Although the results are promising, long term follow up and ongoing clinical trials will determine the full potential of prenatal ERT to mitigate neurological and systemic complications in lysosomal disorders. The editorial underscores the transformative potential of this approach while calling for further research to optimize therapeutic protocols.