期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 387, 期 23, 页码 2150-2158出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa2200587
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In utero enzyme-replacement therapy (ERT) showed safety and efficacy in a fetus with CRIM-negative infantile-onset Pompe's disease, resulting in normal cardiac and motor function postnatally.
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.
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