Home Enzyme Replacement Therapy in Gaucher Disease: A Review

Overview

Journal J Clin Med

Specialty General Medicine

Date 2025 Feb 13

PMID 39941513

Authors

Beata Kiec-Wilk

Paul Guijt

Michaela Dan

Magy Abdelwahab

Shoshana Revel-Vilk

Christine Serratrice

Affiliations

Soon will be listed here.

Abstract

Since the early 1990s, Gaucher Disease has been a pioneering condition for home-based enzyme replacement therapy (ERT), marking a significant shift in patient care. Since then, many countries have adopted this approach. However, home ERT is not possible in all countries. The aim of this article is to explore the implementation of home ERT for Gaucher disease, focusing on patient expectations, safety, compliance, economic benefits, and practical considerations. The PRISMA reporting protocol was followed, focusing on articles about home ERT for Gaucher Disease. Twenty articles were analyzed in the review, revealing promising outcomes. Home ERT has consistently been shown to be safe, to improve patients' quality of life, to reduce the utilization of hospital resources, and to pose no compliance issues. We believe it is essential to expand the availability of home ERT for Gaucher Disease to all countries where ERT is accessible. Based on the literature review, we present the conditions that must be met before starting home ERT programs.

References

Heinrich R, Claus F, Schoenfelder T . The patients` perspective on home-based infusion: A longitudinal observational study in the German healthcare setting for patients with lysosomal storage disorders treated with enzyme replacement therapy. Mol Genet Metab Rep. 2023; 35:100971. PMC: 10090431. DOI: 10.1016/j.ymgmr.2023.100971. View

Revel-Vilk S, Szer J, Mehta A, Zimran A . How we manage Gaucher Disease in the era of choices. Br J Haematol. 2018; 182(4):467-480. DOI: 10.1111/bjh.15402. View

Elstein D, Burrow T, Charrow J, Giraldo P, Mehta A, Pastores G . Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease. Mol Genet Metab. 2016; 120(1-2):111-115. DOI: 10.1016/j.ymgme.2016.08.005. View

Zimran A, Hollak C, Abrahamov A, van Oers M, Kelly M, Beutler E . Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. Blood. 1993; 82(4):1107-9. View

Serratrice C, Carballo S, Serratrice J, Stirnemann J . Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy. Core Evid. 2016; 11:37-47. PMC: 5072572. DOI: 10.2147/CE.S93717. View

Becker-Cohen M, Szer J, Arbel N, Frydman D, Dinur T, Istaiti M . Rapid velaglucerase alfa infusion for Gaucher disease: 5-year data. Intern Med J. 2022; 52(9):1645-1646. DOI: 10.1111/imj.15898. View

Nalysnyk L, Sugarman R, Cele C, Uyei J, Ward A . Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States. J Manag Care Spec Pharm. 2018; 24(10):1002-1008. PMC: 10397643. DOI: 10.18553/jmcp.2018.24.10.1002. View

Andrade-Campos M, Escuder-Azuara B, Lopez de Frutos L, Serrano-Gonzalo I, Giraldo P . Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies?. Blood Cells Mol Dis. 2020; 85:102478. PMC: 7358160. DOI: 10.1016/j.bcmd.2020.102478. View

Becker-Cohen M, Revel-Vilk S, Frydman D, Dinur T, Tiomkin M, Istaiti M . Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease. Intern Med J. 2023; 54(3):398-403. DOI: 10.1111/imj.16179. View

10.

Zimran A, Revel-Vilk S, Becker-Cohen M, Chicco G, Arbel N, Rolfs A . Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease. Am J Hematol. 2018; 93(9):E246-E248. DOI: 10.1002/ajh.25205. View

11.

Schiffmann R, Ries M, Timmons M, Flaherty J, Brady R . Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant. 2005; 21(2):345-54. DOI: 10.1093/ndt/gfi152. View

12.

Cousins A, Lee P, Rorman D, Raas-Rothschild A, Banikazemi M, Waldek S . Home-based infusion therapy for patients with Fabry disease. Br J Nurs. 2008; 17(10):653-7. DOI: 10.12968/bjon.2008.17.10.29481. View

13.

Iasella C, Johnson H, Dunn M . Adverse Drug Reactions: Type A (Intrinsic) or Type B (Idiosyncratic). Clin Liver Dis. 2016; 21(1):73-87. DOI: 10.1016/j.cld.2016.08.005. View

14.

Hughes D, Mlilligan A, Mehta A . Home therapy for lysosomal storage disorders. Br J Nurs. 2008; 16(22):1384, 1386-9. DOI: 10.12968/bjon.2007.16.22.27768. View

15.

Page M, McKenzie J, Bossuyt P, Boutron I, Hoffmann T, Mulrow C . The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021; 372:n71. PMC: 8005924. DOI: 10.1136/bmj.n71. View

16.

Guest J, Jenssen T, Houge G, Aaseboe W, Tondel C, Svarstad E . Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. Eur J Clin Invest. 2010; 40(12):1104-12. DOI: 10.1111/j.1365-2362.2010.02363.x. View

17.

Ceravolo F, Mascaro I, Sestito S, Pascale E, Lauricella A, Dizione E . Home treatment in paediatric patients with Hunter syndrome: the first Italian experience. Ital J Pediatr. 2013; 39:53. PMC: 3847888. DOI: 10.1186/1824-7288-39-53. View

18.

Bagewadi S, Roberts J, Mercer J, Jones S, Stephenson J, Wraith J . Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively. J Inherit Metab Dis. 2008; 31(6):733-7. DOI: 10.1007/s10545-008-0980-0. View

19.

Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb N . Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev. 2015; (3):CD010324. PMC: 8923052. DOI: 10.1002/14651858.CD010324.pub2. View

20.

Zimran A, Wang N, Ogg C, Crombez E, Cohn G, Elstein D . Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease. Am J Hematol. 2015; 90(7):577-83. PMC: 5033020. DOI: 10.1002/ajh.24040. View