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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease
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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease
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Journal Article
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease
2022
Overview
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)–negative infantile-onset Pompe’s disease. The family history was positive for infantile-onset Pompe’s disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age.
A fetus with infantile-onset Pompe’s disease was treated with a course of intrauterine enzyme replacement starting at approximately 6 months’ gestation.
