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. 2024 Jan 5;19(1):11.
doi: 10.1186/s13023-023-02996-9.

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

Aya Narita  1 , Yuta Koto  2 , Shinichi Noto  3 , Masafumi Okada  4 , Midori Ono  5 , Terumi Baba  5 , Rieko Sagara  5 , Norio Sakai  6
Affiliations

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

Aya Narita et al. Orphanet J Rare Dis. .

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 (October-December 2021). The PROM had three parts: Parts 1 and 2 were translated into Japanese from the pre-existing GD1 PROM, whereas Part 3 was newly developed. Patients (or their caregivers, where necessary) completed the PROM questionnaire on paper and returned it by mail. Mean scores were determined overall and by GD type. Inter-item correlations, content consistency (Cronbach's alpha), and test-retest reliability (Cohen's kappa; main survey only, taken 2 weeks apart) were calculated.

Results: Sixteen patients (three with GD1; six with GD2; seven with GD3) and 33 patients (nine with GD1; 13 with GD2; 11 with GD3) participated in the pre-test and main survey, respectively. All GD2 patients and one-third (6/18) of GD3 patients required caregivers to complete the questionnaire. Mean scores indicated that the burden was highest in GD2 and lowest in GD1. In the main survey, internal consistency was high (Cronbach's alpha = 0.898 overall, 0.916 for Part 3), and test-retest reliability was high for Part 3 (kappa > 0.60 for 13/16 items) but low for Part 1 (kappa < 0.60 for 12/15 items).

Conclusions: We have developed a flexible and reliable PROM that can be tailored for use in all types of GD and propose using Parts 1 and 2 for GD1, Parts 2 and 3 for GD2, and Parts 1, 2, and 3 for GD3.

Keywords: Burden of disease; Gaucher disease; Japan; Neuronopathic Gaucher disease; Patient reported outcome measures; Quality of life; Reliability; Validity.

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Conflict of interest statement

AN, YK, and NS have received research funding from and have served as consultants and on speakers’ bureaus for Takeda Pharmaceutical Company Limited (hereafter Takeda). SN has served as a consultant for Takeda. M Okada is a former employee of IQVIA Solutions Japan K.K. M Ono and RS are employees, and TB is a former employee, of Takeda. M Ono is a stockholder of Takeda.

Figures

Fig. 1
Fig. 1
Inter-item correlations in the main analysis of all patients with GD. The magnitude of the correlation coefficients is indicated by the color (as shown on the scale; blue indicates a positive correlation, red indicates a negative correlation). GD: Gaucher disease; P: Part; PROM: patient-reported outcome measure
Fig. 2
Fig. 2
Inter-item correlations in the main analysis of patients with GD1. The magnitude of the correlation coefficients is indicated by the color (as shown on the scale; blue indicates a positive correlation, red indicates a negative correlation). An “X” indicates that there were insufficient data to determine a correlation coefficient. GD1: type 1 Gaucher disease; P: Part; PROM: patient-reported outcome measure
Fig. 3
Fig. 3
Inter-item correlations in the main analysis of patients with GD2. The magnitude of the correlation coefficients is indicated by the color (as shown on the scale; blue indicates a positive correlation, red indicates a negative correlation). An “X” indicates that there were insufficient data to determine a correlation coefficient. GD2: type 2 Gaucher disease; P: Part; PROM: patient-reported outcome measure
Fig. 4
Fig. 4
Inter-item correlations in the main analysis of patients with GD3. The magnitude of the correlation coefficients is indicated by the color (as shown on the scale; blue indicates a positive correlation, red indicates a negative correlation). An “X” indicates that there were insufficient data to determine a correlation coefficient. GD3: type 3 Gaucher disease; P: Part; PROM: patient-reported outcome measure
Fig. 5
Fig. 5
Recommendation for GD type–specific PROM items. GD: Gaucher disease; GD1/2/3: type 1/2/3 Gaucher disease; PROM: patient-reported outcome measure
See this image and copyright information in PMC

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