Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024

Benedikt Schoser; Nadine A M E van der Beek; Alexander Broomfield; Esther Brusse; Jordi Diaz-Manera; Andreas Hahn; Thomas Hundsberger; Cornelia Kornblum; Michelle Kruijshaar; Pascal Laforet; Eugen Mengel; Tiziana Mongini; David Orlikowski; Giancarlo Parenti; W W M Pim Pijnappel; Mark Roberts; Thomas Scherer; Antonio Toscano; John Vissing; Johanna M P van den Hout; Pieter A van Doorn; Stephan Wenninger; Ans T van der Ploeg

doi:10.1111/ene.16383

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024

Eur J Neurol. 2024 Sep;31(9):e16383. doi: 10.1111/ene.16383. Epub 2024 Jun 14.

Authors

Benedikt Schoser¹, Nadine A M E van der Beek², Alexander Broomfield³, Esther Brusse², Jordi Diaz-Manera⁴, Andreas Hahn⁵, Thomas Hundsberger⁶, Cornelia Kornblum⁷, Michelle Kruijshaar⁸, Pascal Laforet^{9

10}, Eugen Mengel¹¹, Tiziana Mongini¹², David Orlikowski¹³, Giancarlo Parenti¹⁴, W W M Pim Pijnappel¹⁵, Mark Roberts¹⁶, Thomas Scherer¹⁷, Antonio Toscano¹⁸, John Vissing¹⁹, Johanna M P van den Hout²⁰, Pieter A van Doorn², Stephan Wenninger¹, Ans T van der Ploeg²⁰

Affiliations

¹ Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany.
² Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
³ Metabolic Department, Great Ormond Street Hospital, London, UK.
⁴ John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK.
⁵ Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany.
⁶ Department of Neurology, Cantonal Hospital St Gallen, St Gallen, Switzerland.
⁷ Neuromuscular Diseases Section, Department of Neurology, University Hospital Bonn, Bonn, Germany.
⁸ Center for Lysosomal and Metabolic Diseases Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
⁹ Neurology Department, Raymond Poincaré Hospital, Nord-Est-Ile-de-France Neuromuscular Reference Center, Garches, APHP, Paris, France.
¹⁰ FHU PHENIX, Université Versailles Saint Quentin en Yvelines, Paris-Saclay University, Paris, France.
¹¹ Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany.
¹² Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, Torino, Italy.
¹³ Clinical Investigation Center 1429 APHP/INSERM, UMR 1179, Hôpital Raymond Poincaré, Université de Versailles Saint Quentin/Paris Saclay, FHU PHENIX, Paris, France.
¹⁴ Department of Translational Medicine, Federico II University, Naples, Italy.
¹⁵ Department of Clinical Genetics, Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
¹⁶ Manchester Centre for Clinical Neurosciences, Manchester, UK.
¹⁷ Division of Endocrinology, Innere III, Medical University of Vienna, Vienna, Austria.
¹⁸ ERN-NMD Center of Messina for Rare Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
¹⁹ Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
²⁰ Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Abstract

Background and purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late-onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT.

Methods: The European Pompe Consortium consists of 25 neuromuscular and metabolic experts from eight European countries. This update was performed after an in-person meeting, three rounds of discussion and voting to provide a consensus recommendation.

Results: The patient should be symptomatic, that is, should have skeletal muscle weakness or respiratory muscle involvement. Muscle magnetic resonance imaging findings showing substantial fat replacement can support the decision to start in a patient-by-patient scenario. Limited evidence supports switching ERT if there is no indication that skeletal muscle and/or respiratory function have stabilized or improved during standard ERT of 12 months or after severe infusion-associated reactions. Switching of ERT should be discussed on a patient-by-patient shared-decision basis. If there are severe, unmanageable infusion-associated reactions and no stabilization in skeletal muscle function during the first 2 years after starting or switching treatment, stopping ERT should be considered. After stopping ERT for inefficacy, restarting ERT can be considered. Six-monthly European Pompe Consortium muscle function assessments are recommended.

Conclusions: The triple-S criteria on ERT start, switch and stop include muscle magnetic resonance imaging as a supportive finding and the potential option of home infusion therapy. Six-monthly long-term monitoring of muscle function is highly recommended to cover insights into the patient's trajectory under ERT.

Keywords: EPOC; Pompe disease; enzyme replacement therapy; late‐onset; therapy switch.

Publication types

Practice Guideline

MeSH terms

Enzyme Replacement Therapy* / methods
Europe
Glycogen Storage Disease Type II* / drug therapy
Humans