In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

his study reports on the safety and efficacy of in utero enzyme replacement therapy (ERT) for a fetus with CRIM negative infantile onset Pompe’s disease, a severe lysosomal storage disorder. The fetus received six infusions of alglucosidase alfa via the umbilical vein starting at 24 weeks of gestation. Postnatal outcomes at 13 months showed normal cardiac function, age appropriate motor development, and absence of glycogen deposits in the placenta, contrasting with the severe outcomes of untreated siblings. The study suggests that in utero ERT may prevent irreversible organ damage and improve clinical outcomes in early onset lysosomal storage diseases.

his study reports on the safety and efficacy of in utero enzyme replacement therapy (ERT) for a fetus with CRIM negative infantile onset Pompe’s disease, a severe lysosomal storage disorder. The fetus received six infusions of alglucosidase alfa via the umbilical vein starting at 24 weeks of gestation. Postnatal outcomes at 13 months showed normal cardiac function, age appropriate motor development, and absence of glycogen deposits in the placenta, contrasting with the severe outcomes of untreated siblings. The study suggests that in utero ERT may prevent irreversible organ damage and improve clinical outcomes in early onset lysosomal storage diseases.