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

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.