Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.

ABSTRACT:

Background

Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL). A patient-reported outcome measure (PROM) for HRQOL developed for type 1 GD (GD1) is not appropriate for patients with neuronopathic GD (nGD) types 2 (GD2) and 3 (GD3). In this study, we developed a new PROM for use in all GD types. We previously reported the qualitative analysis of interviews with Japanese patients with nGD, which was used to create nGD-specific PROM items. Here we evaluated the full PROM combining the type 1 questionnaire with the new nGD-specific items.

Methods

Patients with confirmed GD were recruited (Association of Gaucher Disease Patients in Japan or leading doctors) for pre-testing (May 2021) or the main survey (Octob

SUBMITTER: Narita A 

PROVIDER: S-EPMC10770997 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature