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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


Meikle, P.J., Hopwood, J.J., Clague, A.E. & Carey, W.F. (1999). Prevalence of lysosomal storage disorders. Journal of the American Medical Association 281 (3) 249-254.

Al-Jasmi, F.A., Tawfig, N., Berniah, A., Ali, B.R., Taleb, M., Hertecant, J.L. Bastaki, F. & Souid, A.K. (2013). Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE. JIMD Reports 10, 1-9.

Poupetova, H., Ledvinova, J., Berna, L., Dvorakova, L., Kozich, V. & Elleder, M. (2010). The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. Journal of Inherited Metabolic Disease 33 (4) 387-396.

Ortolano, S., Vieitez, I., Navarro, C. & Spuch, C. (2014). Treatment of lysosomal storage diseases: recent patents and future strategies. Recent Patents on Endocrine, Metabolic & Immune Drug Discovery 8 (1) 9-25.

Parini, R., Pozzi, K., Di Mauro, S., Furlan, F. & Rigoldi, M. (2010). Intravenous enzyme replacement therapy: hospital vs home. British Journal of Nursing 19 (14) 892-894, 896-898.

Giraldo, P., Solano, V., Perez-Calvo, J.I., Giralt, M., Rubio-Felix, D. & Spanish Group on Gaucher Disease. (2005). Quality of life related to type 1 Gaucher disease: Spanish experience. Quality of Life Research 14 (2) 453-462.

Damiano, A.M., Pastores, G.M. & Ware, J.E., Jr. (1998). The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Quality of Life Research 7 (5) 373-386.

Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C. Levade, T., Astudillo, L., Serratrice, J., Brassier, A., Rose, C., Billete de Villemeur, T. & Berger, M.G. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences 18 (2) E441.

Arends, M., Hollak, C.E. & Biegstraaten, M. (2015). Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet Journal of Rare Diseases 10, 77.

Jameson, E., Jones, S. & Remmington, T. (2016). Enzyme replacement therapy with laronidase (Aldurazyme((®))) for treating mucopolysaccharidosis type I. Cochrane Database of Systematic Reviews 4:CD009354.

Freedman, R., Sahhar, M., Curnow, L., Lee, J. & Peters, H. (2013). Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families. Journal of Genetic Counseling 22 (4) 517-532.

Bagewadi, S., Roberts, J., Mercer, J., Jones, S., Stephenson, J. & Wraith, J.E. (2008). Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively. Journal of Inherited Metabolic Disease 31 (6) 733-737.

Genzyme. (2010). Cerezyme prescribing information. Available from: https://www.cerezyme.com/. Accessed: 5

May 2017.

Genzyme. (2010). Fabrazyme prescribing information. Available from: https://www.fabrazyme.com/. Accessed: 5

May 2017.

Genzyme. (2013). Aldurazyme prescribing information. Available from: https://www.aldurazyme.com/patients.aspx. Accessed: 5 May 2017.

Cousins, A., Lee, P., Rorman, D., Raas-Rothschild, A., Banikazemi, M., Waldek, S. & Thompson, L. (2008). Home-based infusion therapy for patients with Fabry disease. British Journal of Nursing 17 (10) 653-657.

Milligan, A., Hughes, D., Goodwin, S., Richfield, L. & Mehta, A. (2006). Intravenous enzyme replacement therapy: better in home or hospital? British Journal of Nursing 15 (6) 330-333.




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

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