• Jennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E Schwab, Deeksha Bali, Sarah P Young, Michael H Gelb, Hamid Khaledi, Alicia DiBattista, Stacey Smallshaw, Felipe Moretti, Derek Wong, Catherine Lacroix, Dina El Demellawy, Kyle C Strickland, Jane Lougheed, Anita Moon-Grady, Billie R Lianoglou, Paul Harmatz, Priya S Kishnani, and Tippi C MacKenzie.
• From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
• N. Engl. J. Med. 2022 Dec 8; 387 (23): 215021582150-2158.

AbstractPatients 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.Copyright © 2022 Massachusetts Medical Society.

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