You are here

  • Home
  • Archive
  • Volume 60, Issue 5
  • Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme

Article Text

Article menu
Download PDFPDF
Biochemical genetics
Original research
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
  1. Chia-Feng Yang1,2,
  2. Ting-Wei Ernie Liao1,2,
  3. Yen-Ling Chu1,2,
  4. Li-Zhen Chen1,2,
  5. Ling-Yi Huang2,3,
  6. Tsui-Feng Yang4,
  7. Hui-Chen Ho5,
  8. Shu-Min Kao6,
  9. Dau-Ming Niu1,2
  1. 1 School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan
  2. 2 Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
  3. 3 Department of Internal Medicine, Division of Nephrology, Taipei City Hospital Heping Fuyou Branch, Taipei, Taiwan
  4. 4 Department of Physical Medicine and Rehabilitation, Taipei Veterans General Hospital, Taipei, Taiwan
  5. 5 Taipei Institute of Pathology, Neonatal Screening Center, Taipei, Taiwan
  6. 6 Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan
  1. Correspondence to Dr Dau-Ming Niu, Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; dmniu.submission{at}gmail.com

Abstract

Background Starting enzyme replacement therapy (ERT) before severe irreversible muscular damage occurs is important in infantile-onset Pompe disease (IOPD). This long-term follow-up study demonstrates our diagnostic and treatment strategies for IOPD and compares our clinical outcomes with those of other medical centres.

Methods In this long-term follow-up study, we analysed the outcomes of very early ERT with premedication hydrocortisone in patients with IOPD. Out of 1 228 539 infants screened between 1 January 2010 and 28 February 2021, 33 newborns had confirmed IOPD in Taipei Veterans General Hospital. Twenty-six were regularly treated and monitored at Taipei Veterans General Hospital. Echocardiographic parameters, biomarkers, IgG antibodies against alglucosidase alpha, pulmonary function variables and developmental status were all assessed regularly over an average follow-up duration of 6.18±3.14 years. We compared the long-term treatment outcomes of our patients with those of other research groups.

Results The average age at ERT initiation was 9.75±3.17 days for patients with classic IOPD. The average of the latest antialglucosidase alpha IgG titre was 669.23±1159.23. All enrolled patients had normal heart sizes, motor milestones, cognitive function and pulmonary function that were near-normal to normal. Compared with patients in other studies, our patients had better outcomes in all aspects.

Conclusion Very early ERT using our rapid diagnostic and treatment strategy enabled our patients with IOPD to have better outcomes than patients in other medical centres.

  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Disease Management
  • Early Diagnosis
  • Genetics, Medical
  • Pediatrics

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

https://doi.org/10.1136/jmg-2022-108675

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Data availability statement

    Data sharing not applicable as no datasets generated and/or analysed for this study.

    View Full Text

    Footnotes

    • C-FY and T-WEL contributed equally.

    • Contributors C-FY conceptualised and designed the study, curated and analysed the data, obtained funding, drafted the initial manuscript, and reviewed and revised the manuscript. T-WEL conceptualised and designed the study, curated, analysed, and visualised the data, drafted the initial manuscript, and reviewed and revised the manuscript. Y-LC curated, analysed, and visualised the data, and coordinated responsibilities for the planning and implementation of research activities. L-ZC conceptualised the study, curated and analysed the data, and drafted the initial manuscript. L-YH coordinated responsibilities for the planning and implementation of research activities and reviewed and revised the manuscript. T-FY, H-CH, and S-MK designed the study, collected the data and provided study materials. D-MN served as the guarantor, conceptualised and designed the study, obtained funding, supervised the study, provided study materials, drafted the initial manuscript, and reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

    • Funding This study was supported by the Ministry of Science and Technology, Taiwan (grant number 110-2628-B-075-010); Taipei Veterans General Hospital (grant number V111C-102); Yen Tjing Ling Medical Foundation (grant number CI-111-29); and Sanofi Co. (grant number C2107200).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.