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

doi:10.1016/j.jpeds.2021.12.072

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 journal › Article › Academic › peer-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 language	English
Pages (from-to)	139-147.e2
Journal	Journal of Pediatrics
Volume	244
DOIs	https://doi.org/10.1016/j.jpeds.2021.12.072
Publication status	Published - 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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Cite this

@article{be044e8cebbe4a838bad878e2115d587,

title = "Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening",

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.",

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

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: {\textcopyright} 2021 The Author(s)",

year = "2022",

month = may,

doi = "10.1016/j.jpeds.2021.12.072",

language = "English",

volume = "244",

pages = "139--147.e2",

journal = "Journal of Pediatrics",

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T1 - Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

AU - Lee, Ni Chung

AU - Chang, Kai Ling

AU - in 't Groen, Stijn L.M.

AU - de Faria, Douglas O.S.

AU - Huang, Hsiang Ju

AU - Pijnappel, W. W.M.Pim

AU - Hwu, Wuh Liang

AU - Chien, Yin Hsiu

N1 - 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)

PY - 2022/5

Y1 - 2022/5

N2 - 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.

AB - 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.

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U2 - 10.1016/j.jpeds.2021.12.072

DO - 10.1016/j.jpeds.2021.12.072

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AN - SCOPUS:85123706310

SN - 0022-3476

VL - 244

SP - 139-147.e2

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

Abstract

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