Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.

ABSTRACT:

Background

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 are available for type 1 GD, they are not suitable for patients with the neuronopathic types 2 and 3 GD who have neurological symptoms that develop during early childhood or adolescence. Here 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 provision for all types of GD in the future.

Methods

In February and March 2021, semi-structured interviews were conducted by the authors (supported by qualified interviewers) with patients and/or

SUBMITTER: Koto Y 

PROVIDER: S-EPMC9295096 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature