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List of authors.- Jennifer L. Cohen, M.D.,
- Pranesh Chakraborty, M.D.,
- Karen Fung-Kee-Fung, M.D.,
- Marisa E. Schwab, M.D.,
- Deeksha Bali, Ph.D.,
- Sarah P. Young, Ph.D.,
- Michael H. Gelb, Ph.D.,
- Hamid Khaledi, Ph.D.,
- Alicia DiBattista, Ph.D.,
- Stacey Smallshaw, R.N.,
- Felipe Moretti, M.D.,
- Derek Wong, M.D.,
- Catherine Lacroix, P.T.,
- Dina El Demellawy, M.D., Ph.D.,
- Kyle C. Strickland, M.D., Ph.D.,
- Jane Lougheed, M.D.,
- Anita Moon-Grady, M.D.,
- Billie R. Lianoglou, M.S.,
- Paul Harmatz, M.D.,
- Priya S. Kishnani, M.D.,
- and Tippi C. MacKenzie, M.D.
Summary
Patients with early-onset lysosomal retention diseases are perfect candidates for prenatal therapy due to the fact that organ harm starts successful utero. We study the information and efficacy results of successful utero enzyme-replacement therapy (ERT) successful a fetus with CRIM (cross-reactive immunologic material)–negative infantile-onset Pompe’s disease. The household past was affirmative for infantile-onset Pompe’s illness with cardiomyopathy successful 2 antecedently affected deceased siblings. After receiving successful utero ERT and modular postnatal therapy, the existent diligent had mean cardiac and age-appropriate centrifugal relation postnatally, was gathering developmental milestones, had mean biomarker levels, and was feeding and increasing good astatine 13 months of age.
Funding and Disclosures
The protocol improvement and the collection, shipping, and investigation of samples were supported by funds from the Center for Maternal–Fetal Precision Medicine (University of California, San Francisco [UCSF]), the Y.T. and Alice Chen Pediatric Genetics and Genomics Research Center (Duke University), Newborn Screening Ontario, CHEO Research Institute, and a assistance (R01 DK067859) from the National Institutes of Health. Sanofi Genzyme provided the enzyme for this patient.
Disclosure forms provided by the authors are disposable with the afloat substance of this nonfiction astatine NEJM.org.
Drs. Cohen and Chakraborty and Drs. Kishnani and MacKenzie contributed arsenic to this article.
This nonfiction was published connected November 9, 2022, astatine NEJM.org.
We convey the diligent and her household for their participation; Ankit Desai, Akos Herzeg, Eleanor Rodriguez-Rassi, Seung-Hye Jung, Catherine Rehder, and Erika Bariciak for adjuvant discussions regarding this work; Nathan McIntosh, Deidre Kelly, Wendy Mears, and Alan Mears for adjuvant discussions and for preparing each the fetal samples for analysis; and Pam Derish (UCSF Department of Surgery) for captious speechmaking of an earlier mentation of the manuscript.
Author Affiliations
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.) — each successful 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.).
Dr. MacKenzie tin beryllium contacted astatine [email protected] oregon astatine UCSF Pediatric Surgery, 550 16th St., San Francisco, CA 94143-0570.
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