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Observational Study
. 2025 Oct 31;20(1):554.
doi: 10.1186/s13023-025-03866-2.

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database

Alicia Le Bras  1 , Pascale De Lonlay  2 , Shahram Attarian  3 , Anaïs Brassier  4 , Isabelle Durand-Zaleski  5   6   7 , Pascal Laforêt  8 ; Pompe Study Group
Collaborators, Affiliations
Observational Study

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database

Alicia Le Bras et al. Orphanet J Rare Dis. .

Abstract

Background: Pompe disease is a rare, severe genetic multisystem disorder. It was one of the first genetic muscle diseases to benefit from an innovative therapy-enzyme replacement therapy (ERT)-more than 15 years ago. Despite this progress, data on patient management in community healthcare settings remain scarce, yet essential to understanding the dual economic and clinical burden of the disease. In this context, the French national healthcare claims database offers a valuable resource for comprehensive data collection. To our knowledge, this study is the first to provide a detailed, patient-level analysis of healthcare resource utilization for patients with Pompe disease. Our objective was to estimate the number of patients receiving ERT with alglucosidase alfa (Myozyme®), describe their care pathways, and assess associated medical expenses in both community settings and healthcare facilities across France.

Method: Cases of Pompe disease were identified using the French national healthcare claims database aims for expensive drugs. All patients with at least one hospitalization for ERT with Myozyme® in France in 2022 were included. Healthcare resource utilization in 2022 was documented, and costs were assessed from the perspective of public health insurance. Costs drivers were analyzed using a generalised linear model. A supplementary analysis using 2023 data was also conducted.

Results: A total of 154 patients were analyzed, including 24 with classic infantile-onset Pompe disease (IOPD) and 130 with late-onset Pompe disease (LOPD), with a mean age of 48.0 years. The annual healthcare cost per patient was €232,117 for IOPD patients and €358,768 for LOPD patients, nearly 96% of the costs were incurred inside hospitals. In addition to the unit cost of Myozyme® and related hospitalization, ventilator dependence and female sex emerged as major cost drivers. The 2023 data confirmed the robustness of the main findings, showing no substantial year-specific variations.

Conclusion: This study provides robust real-world data to assess both hospital and non-hospital costs associated with Pompe disease in patients treated with Myozyme®. With an average of 81.9 medical or paramedical consultations per year and 49 days of hospitalization in 2022, the clinical burden imposed by Pompe disease is substantial, yet essential for patient care.

Keywords: Care pathways; Claims; Cohort studies; Enzyme replacement therapy; Expenditures; Glycogen storage disease type II; Medical spending.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The French public institution conducting this study has permanent access to the national claims database, in accordance with Articles R. 1461–12 et seq. of the French Public Health Code and the French Data Protection Authority (CNIL) decision CNIL-2016–316. This study is registered on the Health Data Hub website (No. 20071826). Consent for publication: Not applicable. Informed consent There was no patient involvement in the design of the study. Consequently, no informed consent was required. Competing interests: Pascal Laforêt received fees for participation to scientific boards by AMICUS Therapeutics, Sanofi Genzyme, Spark Therapeutics, consulting fees by Sanofi Genzyme, BioMarin, Sanofi Genzyme, Spark Therapeutics and sponsoring for scientific congress by Sanofi Genzyme, Amicus Therapeutics, Spark Therapeutics. Isabelle Durand-Zaleski received fees for participation to scientific boards by Air Liquide, BMS, Janssen, MSD, Pfizer, Sanofi Genzyme. Alicia Le Bras, Pascale De Lonlay, Shahram Attarian and Anaïs Brassier have nothing to disclose.

References

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