In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
Publication
, Journal Article
Cohen, JL; Chakraborty, P; Fung-Kee-Fung, K; Schwab, ME; Bali, D; Young, SP; Gelb, MH; Khaledi, H; DiBattista, A; Smallshaw, S; Moretti, F ...
Published in: N Engl J Med
December 8, 2022
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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Published In
N Engl J Med
DOI
EISSN
1533-4406
Publication Date
December 8, 2022
Volume
387
Issue
23
Start / End Page
2150 / 2158
Location
United States
Related Subject Headings
- Infant
- Humans
- Glycogen Storage Disease Type II
- General & Internal Medicine
- 42 Health sciences
- 32 Biomedical and clinical sciences
- 11 Medical and Health Sciences
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APA
Chicago
ICMJE
MLA
NLM
Cohen, J. L., Chakraborty, P., Fung-Kee-Fung, K., Schwab, M. E., Bali, D., Young, S. P., … MacKenzie, T. C. (2022). In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. N Engl J Med, 387(23), 2150–2158. https://doi.org/10.1056/NEJMoa2200587
Cohen, Jennifer L., Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E. Schwab, Deeksha Bali, Sarah P. Young, Michael H. Gelb, et al. “In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.” N Engl J Med 387, no. 23 (December 8, 2022): 2150–58. https://doi.org/10.1056/NEJMoa2200587.
Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, et al. In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. N Engl J Med. 2022 Dec 8;387(23):2150–8.
Cohen, Jennifer L., et al. “In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.” N Engl J Med, vol. 387, no. 23, Dec. 2022, pp. 2150–58. Pubmed, doi:10.1056/NEJMoa2200587.
Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-Grady A, Lianoglou BR, Harmatz P, Kishnani PS, MacKenzie TC. In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. N Engl J Med. 2022 Dec 8;387(23):2150–2158.
Published In
N Engl J Med
DOI
EISSN
1533-4406
Publication Date
December 8, 2022
Volume
387
Issue
23
Start / End Page
2150 / 2158
Location
United States
Related Subject Headings
- Infant
- Humans
- Glycogen Storage Disease Type II
- General & Internal Medicine
- 42 Health sciences
- 32 Biomedical and clinical sciences
- 11 Medical and Health Sciences