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Home-based service for enzyme replacement therapy in lysosomal storage disorders: patient reported outcomes

Paolo Tirelli, Fiorina Giona, Maja Di Rocco, Elena Cassinerio, Antonio Pisani, Federico Pieruzzi, Massimiliano Veroux, Gino Alberto Giudici, Filippo Cipriani

Abstract


Background:  Lysosomal storage diseases (LSDs) are a heterogeneous group of rare chronic genetic conditions. The standard-of-care treatment for LSDs is hospital-based infusion of enzyme replacement therapy (ERT), however, over time this can be stressful and inconvenient. The Italian TuTor program, established in 2011 by Sanofi Genzyme, is a professional nursing service providing home-based ERT to patients with LSDs.

Objectives:  The current questionnaire-based study was conducted to investigate the level of patient satisfaction with the

TuTor program and to shed light on disease perception.

Methods:  Patients were enrolled in the TuTor program from 2011 onwards. The first 100 patients enrolled were interviewed at baseline with follow-up interviews conducted at 6, 12 and 18 months.

Results: Overall, 52 patients were female; 46 had Gaucher’s disease, 46 had Fabry disease and 8 had mucopolysaccharidosis type 1. Patients took on average >2 hours to receive hospital-based ERT, plus time associated with the infusion; 2 out of 3 patients needed a caregiver to travel to the hospital. After receiving home-based ERT for 6 months, 37% of patients considered their quality of life ‘greatly improved’ (60% at 18 months). Overall, 99% to 100% of patients rated the home-based nursing service as ‘positive’ or ‘very positive’ and reported that they would recommend the service to other patients with their condition.

Conclusions: For patients with LSDs eligible for ERT, a disease-specific home-based nursing service increased their perception of quality of life over a hospital-based service and was advantageous in terms of their time and expenditure.

Keywords


Lysosomal storage diseases, enzyme replacement therapy, home-based therapy, nursing service, patient-reported outcomes, patient satisfaction, person-centered healthcare, quality of life

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References


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DOI: http://dx.doi.org/10.5750/ejpch.v6i4.1599

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