Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies

Victoria F Wagner,Joanne M Nguyen,S Shahrukh Hashmi,Jessica M Davis,Mary Kay Koenig,Hope Northrup

doi:10.1007/s10897-017-0137-0

Abstract

Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapies (ERTs). More recently, oral substrate reduction therapies (SRTs) were approved for treatment of GD. Although both therapies alleviate disease symptoms, attitudes toward SRTs and patient perceptions of health while using SRT have not been well established. Electronic surveys were administered to adults with GD and asked about treatment history, attitudes toward SRTs, and perception of health while using SRTs as compared to ERTs, if applicable to the participant. ERT users that were offered treatment with SRTs cited potential side effects, wanting more research on SRTs, and satisfaction with their current treatment regimen as reasons for declining SRTs. SRT users expressed convenience and less invasiveness as reasons for choosing SRTs. Additionally, those using SRTs most often perceived their health to be similar to when they previously used ERT. Participant responses illustrate that attitudes toward SRTs can be variable and that one particular treatment may not be ideal for all patients with GD depending on individual perceptions of factors such as convenience, invasiveness, or side effects. Thus, individuals with GD should be counseled adequately by healthcare providers about both ERTs and SRTs for treatment of GD now that SRTs are clinically available.

Highlights

Gaucher disease is the most commonly inherited lysosomal storage disease and involves a deficiency of glucocerebrosidase (Meikle et al 1999; Zhao and Grabowski 2002)
Thirty-two of these participants reported using enzyme replacement therapies (ERTs) (68%), while 14 reported using substrate reduction therapies (SRTs) (30%), and one individual reported no current therapy for Gaucher disease (GD) at the time of the study (2%)
Twelve current SRT users that used ERTs in the past compared their perceptions of health while on each treatment with regard to five health categories: Bgeneral health,^ ability to complete everyday activities or Bphysical ability,^ Bemotional health,^ Bsocial interactions,^ and Bsatisfaction with life.^ More than half of the subgroup reported no difference in their perception of health while using SRTs as compared to ERTs with regard to general health, physical ability, emotional health, social interactions, and satisfaction with life (Fig. 2)

Summary

Introduction

Gaucher disease is the most commonly inherited lysosomal storage disease and involves a deficiency of glucocerebrosidase (Meikle et al 1999; Zhao and Grabowski 2002). Type 1 Gaucher disease (hereafter abbreviated as GD) is considered non-neuropathic, accounts for 90% of all cases of Gaucher disease, and has increased prevalence in Ashkenazi Jewish populations (Beutler 1991; Esplin 1994). While there is no cure for GD, enzyme replacement therapies (ERTs) were approved by the United States Food and Drug Administration (FDA) in 1994 for the treatment of GD symptoms (Esplin 1994). As of 2014, the FDA and European Medicines Agency consider ERT to be the first-line treatment for GD (European Medicines Agency 2014)

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