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

Burden of disease Gaucher disease Japan Neuronopathic Gaucher disease Patient reported outcome measures Quality of life Reliability Validity

Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
05 Jan 2024
Historique:
received: 12 04 2023
accepted: 13 12 2023
medline: 6 1 2024
pubmed: 6 1 2024
entrez: 5 1 2024
Statut: epublish

Résumé

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. 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. 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). 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.

Sections du résumé

BACKGROUND 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 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 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 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.

Identifiants

DOI: 10.1186/s13023-023-02996-9 PMID: 38183145
pubmed: 38183145
doi: 10.1186/s13023-023-02996-9
pii: 10.1186/s13023-023-02996-9
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

11

Informations de copyright

© 2024. The Author(s).

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Auteurs

Aya Narita (A)

Division of Child Neurology, Faculty of Medicine, Institute of Neurological Science, Tottori University, Yonago, Japan.

Yuta Koto (Y)

School of Nursing, Faculty of Health Science, Osaka Aoyama University, Osaka, Japan.

Shinichi Noto (S)

Department of Rehabilitation, Niigata University of Health and Welfare, Niigata, Japan.

Masafumi Okada (M)

Real-World Evidence Solutions & HEOR, IQVIA Solutions Japan K.K., Tokyo, Japan.

Midori Ono (M)

Japan Medical Office, Takeda Pharmaceutical Company Limited, Tokyo, Japan.

Terumi Baba (T)

Japan Medical Office, Takeda Pharmaceutical Company Limited, Tokyo, Japan.

Rieko Sagara (R)

Japan Medical Office, Takeda Pharmaceutical Company Limited, Tokyo, Japan.

Norio Sakai (N)

Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, 1‑7 Yamadaoka, Suita, Osaka, 565‑0871, Japan. norio@sahs.med.osaka-u.ac.jp.
ORCID: 0000-0003-3374-6709

Classifications MeSH