Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach

Abstract

Despite life-long pharmacotherapy for many people affected by lysosomal storage diseases, no data are available on their beliefs about their treatments. Therapeutic options range from disease-specific, with varying levels of effectiveness, to purely supportive. This spectrum is illustrated by the three diseases Gaucher disease type 1 (effective disease-specific therapies), Fabry disease (disease-specific therapies with variable effectiveness), and mucopolysaccharidosis type III A/B (supportive care only). Employing the Necessity-Concerns Framework of the Beliefs in Medicine Questionnaire, we investigated intra- and intergroup variability in adults with Gaucher disease type 1, Fabry disease, and parents of children with mucopolysaccharidosis type III A/B. Participants rated necessity and concern items on a Likert scale, leading to categorization as accepting, skeptical, indifferent, or ambivalent. Self-reported demographic, disease-, and therapy-related data were also obtained. Eighty-one surveys were completed. Gaucher disease respondents (n = 15) were overwhelmingly categorized as accepting (high necessity, low concern). Female Fabry disease respondents (n = 43) were almost equally distributed over all categories except accepting. Male Fabry disease respondents (n = 16) were mostly ambivalent or accepting, indicating overall high necessity scores but varying concern. All mucopolysaccharidosis type III participants (n = 7) were categorized as indifferent (low necessity, low concern). The Beliefs in Medicine Questionnaire emerged as a valuable and feasibly employable tool for individual and group assessments in these populations. It reveals differences in beliefs aligned with current unmet medical needs. Expansion of this approach is warranted to optimize personalized counseling on therapeutic choices and to align drug development with the needs and beliefs of potential recipients.

Keywords: Fabry disease; Gaucher disease; adherence; beliefs about medicines; lysosomal storage diseases; mucopolysaccharidosis III.

FIGURE 1

Recruitment flowchart. PIF: patient information folder; RR: response rate.

FIGURE 2

BMQ distribution per disease group. Respondents are categorized as one of four attitudinal groups: Acceptant—high score on the necessity subscale and low on the concern subscale, ambivalent—high score on the necessity and concern subscales, skeptical—low score on the necessity subscale and high on the concern subscale, and indifferent—low score on the necessity and concern subscales. MPS III numbers here represent the number of surveys, data points marked with an additional circle depict the outcome of one survey representing two people with the diagnosis. The dot inside a diamond is representative of three data points (not individually visible because of overlap): One GD, one FDf, one FDm. The dot inside a square is representative of two data points (not individually visible because of overlap): one GD, one FDm. FDf: women with Fabry disease; FDm: men with Fabry disease; GD1: Gaucher disease; MPS III: mucopolysaccharidosis type III.

FIGURE 3

Percentage of responses to all cumulative items of each scale per disease group. The bar graphs depict the percentage of respondents in each disease group that chose each of the five options on a Likert scale on how strongly they (dis)agree with the items that comprise the necessity and concern scale. This illustrates differences between disease groups regarding the distribution of high and low necessity and concern scores. FDf: female respondents with Fabry disease; FDm: male respondents with Fabry disease; GD1: Gaucher disease type 1; MPSIII: mucopolysaccharidosis type 3.