Orphanet Journal of Rare Diseases | Long-term Safety and Patient Preferences for Home-based Enzyme Replacement Therapy in Pompe and MPS-I Patients

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This study evaluated the long-term safety, treatment adherence, and satisfaction among 56 Italian patients with Pompe disease and Mucopolysaccharidosis Type I (MPS-I) receiving home-based enzyme replacement therapy (ERT). The results showed that most patients were satisfied with home therapy, citing greater convenience, reduced stress, and no need for frequent hospital visits.

 

Literature Overview

This article, titled 'Long-term Safety and Patient Preferences for Home-based Enzyme Replacement Therapy (ERT) in Patients with Pompe Disease and Mucopolysaccharidosis Type I (MPS-I)', published in the Orphanet Journal of Rare Diseases, reviews and summarizes the final results of the multicenter, non-interventional, observational HomERT study conducted in Italy. A total of 56 patients were enrolled, including 47 with Pompe disease and 9 with MPS-I, who received Myozyme® (alglucosidase alfa) and Aldurazyme® (laronidase) respectively. The study period spanned from October 2021 to February 2024, with an average follow-up of over 12 months. Adverse reactions, treatment adherence, and patient satisfaction with home ERT were assessed, revealing good safety profiles and high levels of patient satisfaction with the comfort and convenience of home therapy.

Background Information

Pompe disease and Mucopolysaccharidosis Type I (MPS-I) are rare lysosomal disorders caused by deficiencies in α-glucosidase and α-L-iduronidase, respectively. These conditions lead to abnormal substrate accumulation across multiple tissues, affecting the heart, muscles, and respiratory system. ERT is the standard long-term treatment, traditionally administered in hospitals via intravenous infusions. However, home-based ERT has recently emerged as a viable alternative. This study further explores the feasibility of implementing home ERT in Italy, evaluating its safety, patient satisfaction, and treatment discontinuation rates, providing key insights for future rare disease management.

 

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Study Methods and Experimental Design

HomERT was a multicenter, non-interventional, prospective observational cohort study involving 56 Italian patients (47 with Pompe disease and 9 with MPS-I), with an observation period of at least 12 months. The data included both retrospective and prospective components, assessing adverse events, treatment discontinuation rates, patient satisfaction, and changes in quality of life.

Key Findings and Perspectives

• The study showed that Pompe disease patients receiving home ERT missed an average of 5.8 treatments (SD 3.92), while MPS-I patients missed only 3.0 treatments (SD 3.52)
• Only 2 Pompe patients returned to the hospital due to adverse events, indicating a high level of safety in home ERT settings
• Patient satisfaction was high, with 93.6% of Pompe patients and 88.9% of MPS-I patients preferring home therapy
• Key reasons for choosing home treatment included convenience and reduced stress from hospital travel
• Adverse events during home ERT were low in frequency and mostly mild, such as rashes and fever, with no severe or life-threatening reactions reported
• Despite underlying conditions, most patients rated their health status as good or fair, with 17% of Pompe patients self-reporting poor health, but none among MPS-I patients

Implications and Future Directions

This study provides real-world evidence from Italy on the long-term safety and patient acceptance of home-based ERT for Pompe and MPS-I. The findings support the expansion of home ERT across Italy and other EU regions, reducing patient burden and improving treatment adherence. Future research should explore the quantitative impact of home ERT on quality of life and its applicability to other rare diseases.

 

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Conclusion

The final results of this study indicate that home-based ERT in Italy is safe and well-adhered to, with a strong patient preference for home treatment. The study highlights the potential of home ERT in rare disease management, offering support for policy-making and healthcare resource optimization. With the approval of new ERT drugs (e.g., avalglucosidase alfa) and potential guideline updates, home ERT is expected to expand further.

 

Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Rossella Parini, and Maurizio Scarpa. Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation. Orphanet Journal of Rare Diseases.