OBJECTIVES: To know the impact of Gaucher disease (GD) on Japanese patients, patient-reported outcome (PRO) measurement (PROM) for Japanese (J-GD PROM) is expected. Since neuropathic GD patient (nGD) of type 2 (GD2) and type 3 (GD3) is the majority in Japan, we firstly attempted to establish nGD specific PRO question items via qualitative interview and group discussion. This led to establish the J-GD PROM applicable for all types of GD by including the GD1-PROM for type 1 (GD1) patients (Elstein et al, 2021). In this study, the J-GD PROM was administered to Japanese GD patients to know their burden. Also, validated questionnaire for caregivers (Zarit and Caregiver Impact Questionnaire, CIQ) were administered to their caregivers to clarify the caregiver’s burden.

METHODS: The J-GD PROM is composed of Part 1 and Part 2 originated from the GD1-PROM and Part 3 established in our study. After pre-test to evaluate its feasibility, the main survey was implemented with patients and caregivers to confirm reliability.

RESULTS: The 33 patients and caregivers with GD1, GD2 and GD3 answered the J-GD PROM. Overall, part 3 showed good test-retest reliability in this patient population (13 questions out of 16 indicated Kappa > 0.60). Based on the main survey of patients, the burden of patients and caregivers are heaviest in GD2, whereas lowest in GD1 among all types. Both the burden on patients and caregivers became lower with longer duration after GD diagnosis.

CONCLUSIONS: This is the first study of GD-specific PRO questionnaire development applicable to all types GD patients in Japan.