Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies

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.

Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations

“…In conclusion, our report adds to the value of lyso-Gb1 as a reliable biomarker for monitoring treated patients with GD1, in this case, with ERT. The statistical models used herein may be adopted in future studies to help physicians, patients, and regulatory agencies comparing the various ERTs with the new therapeutic modalities, such as the existing SRTs (which are gaining popularity because of the oral route of administration [ 33 ]) or the investigational therapies, including pharmacological chaperones and gene therapy.…”

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

“…Nevertheless, one cannot exclude the possibility that the therapy itself, particularly bi-weekly intravenous ERT, is the more unsatisfactory outcome. The sample size and the variety of treatments do not allow us to compare the effect of oral SRT with intravenous ERT on PROM [15].…”

Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)

“…For patients with long-term conditions, the decision to switch to a different treatment may be influenced by multiple factors, including inadequate efficacy, the presence of adverse events, adherence to treatment, or reimbursement reasons associated with high treatment costs [ 11 , 12 ], with estimated annual drug costs ranging from EUR 124,000 to EUR 258,000 per patient (2011 data) [ 13 ]. A survey of attitudes toward treatments amongst patients with GD revealed significant variation in the perception of ERT and SRT, with side-effects reported as the most common concern regarding SRTs and the inconvenience of regular infusions as a common concern related to ERTs [ 14 ]. With the approval of each additional agent, the opportunity to switch treatments becomes available to more patients.…”