Reviews

Volume XLIV n. 1 - March 2025

Management of Pompe disease alongside and beyond ERT: a narrative review

Authors

Key words: late-onset Pompe disease, LOPD, glycogenosis, enzyme-replacement therapy, ERT, gene therapy
Publication Date: 2025-03-28

Abstract

Background. Pompe disease is a lysosomal storage disorder that primarily affects muscles, and its natural history has been transformed over the past 20 years by therapies designed to restore the deficient enzyme function, from the first enzyme replacement therapies (ERTs) to the gene therapy currently in development. However, despite these ground-breaking innovations, the importance of a multi-system and rehabilitative approach remains critical, as it addresses the complex systems involved in the disease and optimizes the success of pharmacological treatments.
Methods. We conducted a narrative review of the current pharmacological treatments approved for Pompe disease, as well as those undergoing clinical trials. We also reviewed international recommendations for managing respiratory, musculoskeletal, and cardiac function specially focusing on the late-onset form.
Results. There are no universally agreed guidelines for the multidisciplinary management and many recommendations are based on expert consensus and small interventional studies. Nevertheless, combined approaches involving ERT therapy along with specific rehabilitation and nutritional programs appear to yield beneficial effects.
Conclusions. Pompe disease, one of the first neuromuscular diseases to benefit from the approval of disease-modifying therapies, is a paradigm for the importance of an integrated therapeutic-rehabilitative approach.

Downloads

Authors

Barbara Risi - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

Filomena Caria - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Enrica Bertella - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Giorgia Giovanelli - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Simonetta Gatti - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Loris Poli - Unit of Neurology, ASST Spedali Civili, Brescia, Italy

Stefano Gazzina - Unit of Neurology, ASST Spedali Civili, Brescia, Italy

Ugo Leggio - Unit of Neurology, ASST Spedali Civili, Brescia, Italy

Virginia Bozzoni - Unit of Neurology, ASST Spedali Civili, Brescia, Italy

Irene Volonghi - Unit of Neurology, ASST Spedali Civili, Brescia, Italy

Nesaiba Ait Allali - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Elisa Ottelli - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Elisabetta Ferrari - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Anna Marrello - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy

Giulia Ricci - Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Gabriele Siciliano - Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Alessandro Padovani - Unit of Neurology, ASST Spedali Civili, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

Massimiliano Filosto - NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy; Unit of Neurology, ASST Spedali Civili, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

How to Cite
Risi, B., Caria, F., Bertella, E., Giovanelli, G., Gatti, S. ., Poli, L. ., Gazzina, S., Leggio, U., Bozzoni, V., Volonghi, I., Ait Allali, N., Ottelli, E., Ferrari, E., Marrello, A., Ricci, G., Siciliano, G., Padovani, A., & Filosto, M. (2025). Management of Pompe disease alongside and beyond ERT: a narrative review. Acta Myologica, 44(1). https://doi.org/10.36185/2532-1900-1106
  • Abstract viewed - 14 times
  • PDF downloaded - 13 times