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Peer-reviewedCC BYCureus

Infantile-Onset Pompe Disease: Current Therapeutic Landscape, Clinical Challenges, and Future Horizons.

  • Karolina Wyzkiewicz1
  • Klaudia Zinkowska2
  • Veronika Kobylianska3,4
  • Gabriela Najdek2
  • Julia Molenda2
  • Maria Zimon2
  • Monika Czaplicka2
  • Julia Wróbel5
  • Patryk Mroczka2
  • Hanna Wozny6
6 affiliations
  1. 1Department of Clinical Genetics, Medical University of Lublin, Lublin, POL.
  2. 2Department of Biophysics, Faculty of Medical Sciences, Medical University of Silesia, Zabrze, POL.
  3. 3Department of Pediatric Hematology, Oncology, and Transplantology, Medical University of Lublin, Lublin, POL.
  4. 4Department of Pediatrics, Medical University of Lublin, Lublin, POL.
  5. 5Clinical Department of Cardiac Surgery, Medical University of Lublin, Lublin, POL.
  6. 6Department of General Pediatrics, Independent Public Clinical Hospital No. 1 of the Medical University of Silesia, Zabrze, POL.
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Abstract

Infantile-onset Pompe disease (IOPD) is a type of Pompe disease (PD) whose typical form presents in the first months of life. It is the most severe form of the PD spectrum. The underlying metabolic disturbance leads to widespread muscle involvement, affecting both cardiac and skeletal tissues, which critically impairs motor and respiratory function. Because of that, without treatment, the disease quickly progresses and leads to death. The aim of this article is to present the potential of treatment options for IOPD that have been developed in recent years. Currently, enzyme replacement therapy (ERT) represents the cornerstone of management, aiming to improve cardiac function, support motor development, and extend overall survival. Advanced therapeutic formulations continue to be explored to enhance treatment outcomes. However, conventional ERT presents inherent limitations, including the logistical burden of lifelong intravenous infusions, potential treatment-limiting immune responses, and restricted passage across the blood-brain barrier. Moreover, the challenges posed by ERT have encouraged the development of alternative and complementary treatment strategies. Therefore, novel approaches are currently being investigated.

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Cite

BibTeXRIS
BibTeX
@article{wyzkiewicz2026infantileonset,
  title = {{Infantile-Onset Pompe Disease: Current Therapeutic Landscape, Clinical Challenges, and Future Horizons.}},
  author = {Karolina Wyzkiewicz and Klaudia Zinkowska and Veronika Kobylianska and Gabriela Najdek and Julia Molenda and Maria Zimon and Monika Czaplicka and Julia Wróbel and Patryk Mroczka and Hanna Wozny},
  journal = {Cureus},
  year = {2026},
  month = sep,
  doi = {10.7759/cureus.116696},
  url = {https://europepmc.org/article/MED/42923624},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Infantile-Onset Pompe Disease: Current Therapeutic Landscape, Clinical Challenges, and Future Horizons.
AU  - Karolina Wyzkiewicz
AU  - Klaudia Zinkowska
AU  - Veronika Kobylianska
AU  - Gabriela Najdek
AU  - Julia Molenda
AU  - Maria Zimon
AU  - Monika Czaplicka
AU  - Julia Wróbel
AU  - Patryk Mroczka
AU  - Hanna Wozny
PY  - 2026
DA  - 2026/09/21
JO  - Cureus
DO  - 10.7759/cureus.116696
UR  - https://europepmc.org/article/MED/42923624
AB  - Infantile-onset Pompe disease (IOPD) is a type of Pompe disease (PD) whose typical form presents in the first months of life. It is the most severe form of the PD spectrum. The underlying metabolic disturbance leads to widespread muscle involvement, affecting both cardiac and skeletal tissues, which critically impairs motor and respiratory function. Because of that, without treatment, the disease quickly progresses and leads to death. The aim of this article is to present the potential of treatment options for IOPD that have been developed in recent years. Currently, enzyme replacement therapy (ERT) represents the cornerstone of management, aiming to improve cardiac function, support motor development, and extend overall survival. Advanced therapeutic formulations continue to be explored to enhance treatment outcomes. However, conventional ERT presents inherent limitations, including the logistical burden of lifelong intravenous infusions, potential treatment-limiting immune responses, and restricted passage across the blood-brain barrier. Moreover, the challenges posed by ERT have encouraged the development of alternative and complementary treatment strategies. Therefore, novel approaches are currently being investigated.
SN  - 2168-8184
ER  -