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Background <p>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&#xa0;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.</p> Method <p>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.</p> Results <p>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&#xa0;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.</p> Conclusion <p>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&#xa0;days of hospitalization in 2022, the clinical burden imposed by Pompe disease is substantial, yet essential for patient care.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月31日

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  • Alicia Le Bras,
  • Pascale De Lonlay,
  • Shahram Attarian,
  • Anaïs Brassier,
  • Isabelle Durand-Zaleski,
  • Pascal Laforêt,
  • Azzeddine Arrassi,
  • Anne-Laure Bedat-Millet,
  • Anthony Béhin,
  • Stéphane Beltran,
  • Françoise Bouhour Fatima Bouibede,
  • Catherine Caillaud,
  • Brigitte Chabrol,
  • Murielle Champeaux,
  • Pascal Cintas,
  • Jean-Baptiste Davion,
  • Eva Diab,
  • Joelle Deibener-Kaminsky,
  • Florence Demurger,
  • Caroline Espil,
  • Florence Esselin,
  • François Feillet,
  • Maxime Fournier,
  • Roseline Froissart,
  • Karima Ghorab,
  • Charlene Gillet,
  • Magali Gorce,
  • Dalil Hamroun,
  • Jean-Yves Hogrel,
  • Frédéric Huet,
  • Elsa Krim,
  • François Labarthe,
  • Emmeline Lagrange,
  • Françoise Lebeau,
  • Claire Lefeuvre,
  • Armelle Magot,
  • Laurent Magy,
  • Marcel Maillet-Vioud,
  • Marion Masingue,
  • Karine Mention,
  • Maud Michaud,
  • Aleksandra Nadaj-Pakleza,
  • Sylvain Nollet,
  • Adeline Not,
  • Jean-Baptiste Noury,
  • David Orlikowski,
  • Caroline Paricio,
  • Thierry Perez,
  • Samia Pichard,
  • Hélène Prigent,
  • Dimitri Renard,
  • Juliette Ropars,
  • Sabrina Sacconi,
  • Emmanuelle Salort-Campana,
  • Guilhem Sole,
  • Marco Spinazzi,
  • Frédéric Taithe,
  • Nadjib Taouagh,
  • Céline Tard,
  • Marine Tardieu,
  • Ségolène Toquet,
  • Guy Touati,
  • Patrick Vandeputte,
  • Annie Verschueren,
  • Didier Vincent,
  • Ulrike Walther-Louvier,
  • Taissir Ziri

摘要

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.