In utero

Biology

Enzyme replacement therapy

Glycogen storage disease type II

Fetus

Biochemistry

Biomarker

Genetics

Pediatrics

Heart failure

Age of onset

Internal medicine

Heart disease

Cardiomyopathy

Medicine

Disease

Pregnancy

New England Journal of Medicine

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.

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