Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

Ni Chung Lee, Kai Ling Chang, Stijn L.M. in 't Groen, Douglas O.S. de Faria, Hsiang Ju Huang, W. W.M.Pim Pijnappel, Wuh Liang Hwu, Yin Hsiu Chien*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Objective: To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS). Study design: A prospective observational cohort study was conducted from the initiation of Pompe disease NBS by following subjects every 3-12 months for motor development and biochemical markers. Results: Between 2005 and 2018, 39 of 994 975 newborns evaluated were classified as having LOPD based on low acid α-glucosidase (GAA) activity but no cardiac involvement at the time of screening. As of December 2020, 8 of these 39 infants (21%) were treated with enzyme replacement therapy owing to persistent elevation of creatine kinase (CK), cardiac involvement, or developmental delay. All subjects' physical performance and endurance improved after treatment. Subjects carrying c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] presented a phenotype of nonprogressive hypotonia, muscle weakness, and impairment in physical fitness tests, but they have not received treatment. Conclusions: One-fifth of subjects identified through NBS as having LOPD developed symptoms after a follow-up of up to 15 years. NBS was found to facilitate the early detection and early treatment of those subjects. GAA variants c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] might not cause Pompe disease but still may affect skeletal muscle function.

Original languageEnglish
Pages (from-to)139-147.e2
JournalJournal of Pediatrics
Volume244
DOIs
Publication statusPublished - May 2022

Bibliographical note

Funding Information:
Sanofi Genzyme partially funded this long-term follow-up study. The study funder had no involvement in the collection, analysis, and interpretation of data; the writing of the report; or the decision to submit the manuscript for publication. Y-H.C. has received compensation as a member of the scientific advisory boards of Sanofi Genzyme, Amicus Therapeutics, Takeda, and AskBio; has undertaken contracted research for Sanofi Genzyme and Biogen; and has received honoraria and consulting fees from Sanofi Genzyme, Takeda, Amicus, BioMarin, Biogen, and Novartis. W-L.H. has received compensation as a member of the scientific advisory boards of Sanofi Genzyme, PTC Therapeutics, Takeda, Amicus Therapeutics, and Biogen; has undertaken contracted research for Sanofi Genzyme, BioMarin, and Takeda; and has received honoraria and consulting fees from Sanofi Genzyme, Biogen, BioMarin, and Takeda. N-C.L. has received compensation as a member of the scientific advisory board for Sanofi Genzyme and has received honoraria and consulting fees from Sanofi Genzyme, Takeda, and BioMarin. The other authors declare no conflicts of interest.

Publisher Copyright:
© 2021 The Author(s)

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