Orphanet Journal of Rare Diseases | Analysis of Medical Expenses and Care Pathways for Pompe Patients Receiving Enzyme Replacement Therapy

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This study utilizes the French national healthcare claims database to conduct the first patient-level analysis of medical resource utilization for Pompe disease, revealing that ventilator dependence and female gender are major cost drivers beyond drug expenses. It provides real-world evidence for disease management and economic burden assessment.

 

Overview of Literature
The article \"Medical expenses and care pathways of patients with Pompe receiving myozyme\" published in Orphanet Journal of Rare Diseases reviews medical resource utilization and associated costs in both community and hospital settings following enzyme replacement therapy (ERT) with Myozyme®. Based on French national healthcare data, the study analyzed medical expenditures of 154 patients in 2022 and validated results using 2023 data. Findings demonstrate annual treatment costs reaching €230,000-€350,000 per patient, with over 96% of expenses from hospitalizations. This research fills the gap in comprehensive real-world data for evaluating economic burden of Pompe disease management.

Background Knowledge
Pompe disease, also known as Glycogen Storage Disease Type II, is an autosomal recessive disorder caused by GAA gene mutations leading to acid alpha-glucosidase (GAA) deficiency. The enzyme deficiency results in glycogen accumulation within lysosomes, primarily affecting cardiac and skeletal muscle functions. The disease manifests as infantile-onset (IOPD) with severe hypotonia and cardiomyopathy within months after birth, or late-onset (LOPD) presenting with progressive muscle weakness and respiratory failure. Since 2006, enzyme replacement therapy (ERT) with Myozyme® (alglucosidase alfa) has been the primary treatment approved in Europe and North America, significantly improving survival rates but showing limited long-term efficacy and high treatment costs. Current research focuses on economic burden, treatment adherence, drug price variations, and quality of life, yet comprehensive real-world data analysis has been lacking. This study fills this gap by systematically assessing resource utilization and cost composition in hospital and community settings using the French national healthcare database, providing evidence for future treatment optimization and health policy formulation.

 

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Study Methods and Experiments
This retrospective cohort study utilized the French national healthcare claims database (SNDS) to identify Pompe patients receiving at least one Myozyme® treatment in 2022. Patients were categorized as infantile-onset (IOPD, <15 years) and late-onset (LOPD, ≥15 years). Data collection included outpatient visits, hospitalization days, assistive device usage, and drug expenses. All costs were calculated based on French social health insurance reimbursement rates in 2022 euros. Generalized linear models were applied to identify key cost drivers, with sensitivity analysis performed using 2023 data to validate findings.

Key Findings and Perspectives

• 154 patients were analyzed in 2022 (24 IOPD, 130 LOPD), with average age 48 years and 53.9% female.
• IOPD patients averaged 62.7 hospitalization days/year, LOPD 46.5 days/year, with over 96% of medical expenses from hospitalizations.
• Annual per-patient costs: €232,117 (IOPD) and €358,768 (LOPD), where drugs accounted for >75% of total expenses.
• Beyond drug costs, ventilator dependence and female gender were primary cost drivers, indicating gender and severity-related burden differences.
• Home ERT was observed in some patients but at low rates, confirming hospitalization as the dominant treatment setting.
• 2023 data validated 2022 findings, with slight patient reduction possibly related to temporary approval of new drug Nexviadyme®.

Significance and Future Directions
This study provides the first systematic analysis of medical resource utilization for Pompe patients in France at patient level, offering critical data for cost and care pathway evaluation. Results assist health policymakers in assessing long-term economic burden and optimizing treatment strategies. Future research should integrate the French National Rare Disease Registry (BNDMR) with healthcare databases to include non-ERT-treated patients, enabling comprehensive evaluation of disease natural history and treatment efficacy differences.

 

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Conclusion
Through analysis of French national healthcare claims data, this study presents the first patient-level evidence on medical resource utilization and expenditures for Pompe patients receiving Myozyme®. Findings reveal extremely high annual medical costs dominated by hospitalizations and drug expenses. Ventilator dependence and female gender emerge as significant cost drivers, necessitating personalized care pathways in clinical management. Validation with 2023 data confirms the robustness of 2022 results, demonstrating reproducibility and practical guidance value. The study provides essential real-world evidence for public health policymakers to optimize Pompe treatment and resource allocation.

 

Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, Pascal Laforêt, and Pompe Study Group. Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database. Orphanet Journal of Rare Diseases.