OBJECTIVES: Gaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder that adversely affects life expectancy and health-related quality of life (HRQOL). Although HRQOL questionnaires were reported for type 1 GD, they are not suitable for patients with the neuronopathic types 2 and 3 GD that develop during early childhood or adolescence. We report the development of a language-validated HRQOL questionnaire specifically for patients with neuronopathic types 2 and 3 GD in Japan, which is the first step toward HRQOL questionnaire for all types of GD in the future.

METHODS: Semi-structured interviews were conducted with patients and/or their caregivers (for patients <16 years old) who were recruited from the Association of Gaucher Disease Patients in Japan. Qualitative analysis of interview transcripts was used to identify major themes and key topics within those themes. Hierarchical cluster analysis and co-occurrence network analysis were performed to map relationships between commonly occurring words.

RESULTS: Eight patients (each four with type 2 and type 3 GD) recruited in the interview. Three main themes emerged from qualitative analysis: treatment status, patient burden, and social support systems. Key topics and words within each theme were identified. Commonly used words and the relationships between words identified through the hierarchical cluster and co-occurrence network analyses supported these themes and topics.

CONCLUSIONS: The themes and topics identified in this analysis were specific to patients with types 2 and 3 GD and will be used to develop a HRQOL questionnaire specifically for patients with all GD types.