Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies

• Published in: Journal of genetic counseling Vol. 27; no. 1; pp. 169 - 176
• Main Authors: Wagner, Victoria F., Northrup, Hope, Hashmi, S. Shahrukh, Nguyen, Joanne M., Koenig, Mary Kay, Davis, Jessica M.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-02-2018; Blackwell Publishing Ltd
• Subjects: Adult; Attitude to Health; Attitudes; Biomedical and Life Sciences; Biomedicine; Clinical Psychology; Enzyme replacement therapy; Enzyme Replacement Therapy - methods; Enzyme Replacement Therapy - psychology; Ethics; Gaucher disease; Gaucher Disease - drug therapy; Gaucher Disease - psychology; Gaucher's disease; Genetic counseling; Glucosylceramidase; Gynecology; Health care; Human Genetics; Humans; Intravenous administration; Invasiveness; Original Research; Patient preferences; Perceptions; Public Health; Side effects; Substrate reduction therapy; Therapy preferences; Type 1 Gaucher disease; Patient preferences; Gaucher disease; Genetic counseling; Enzyme replacement therapy; Type 1 Gaucher disease; Therapy preferences; Substrate reduction therapy
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1007/s10897-017-0137-0

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.