Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan

Koto, Yuta; Sakai, Norio; Lee, Yoko; Kakee, Naoko; Matsuda, Junko; Tsuboi, Kazuya; Shimozawa, Nobuyuki; Okuyama, Torayuki; Nakamura, Kimitoshi; Narita, Aya; Kobayashi, Hiroshi; Uehara, Ritei; Nakamura, Yoshikazu; Kato, Koji; Eto, Yoshikatsu

doi:10.1016/j.ymgme.2021.05.004

Cited by 27 publications

(51 citation statements)

References 52 publications

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“…Using qualitative theme analysis of semi-structured interviews, coupled with hierarchical cluster and co-occurrence network analysis, this study has confirmed three main themes—treatment status, patient burden, and social support systems—that are important for patients with nGD and/or their caregivers. The results have allowed identification of key topics within each theme that will inform the development of a specific PROM; this can then be used to assess HRQOL and the effectiveness of medical and other interventions to improve the lives of patients, especially in Japan, where the proportion of patients with nGD is much higher than in other countries [ 6 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…As the purpose of this study was to elicit relevant evidence from qualitative interviews, a sample size of convenience was applied. Given that there are approximately 200 patients with GD of all types in Japan [ 6 ], 10 unique individual interviews were considered a large enough pool to investigate relevant opinions.…”

Section: Methodsmentioning

confidence: 99%

“…Type 3 GD is associated with a later onset in childhood than is seen in type 2. In Japan, a total of 211 patients are estimated to have GD [ 6 ]. However, in contrast to other countries, the proportion of patients with nGD in Japan is higher, accounting for approximately 60% of cases [ 6 – 8 ].…”

Section: Introductionmentioning

confidence: 99%

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

Koto

Narita

Noto

et al. 2022

Orphanet J Rare Dis

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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 their caregivers (for patients < 16 years old) who were recruited from a Japanese patient association, the Association of Gaucher Disease Patients in Japan. Qualitative analysis of interview transcripts was used to identify major themes and key topics within those themes. Hierarchical cluster analysis and co-occurrence network analysis were performed to map relationships between commonly occurring words. The study is registered at the UMIN Clinical Trials Registry (https://www.umin.ac.jp/ctr/index.htm [UMIN000042872]). Results Three main themes emerged from qualitative analysis: treatment status, patient burden, and social support systems. Key topics within each theme included hearing impairment, visual impairment, difficulty swallowing, difficulty speaking, involuntary movement of extremities, epileptic seizures, and body aches (treatment status); anxiety about symptoms, difficulty with exercise and work, anxiety about continuing treatment, anxiety about going out, and tiredness from hospital visit or treatment (patient burden); and dissatisfaction about government service, lack of social support, and information exchange in the patient association (social support systems). Commonly used words and the relationships between words identified through the hierarchical cluster and co-occurrence network analyses supported these themes and topics. Conclusions The themes and topics identified in this analysis were specific to patients with types 2 and 3 GD and will be used to inform the development of a HRQOL questionnaire specifically for patients with all GD types.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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

Koto

Narita

Noto

et al. 2022

Orphanet J Rare Dis

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“…Pompe disease was the most frequently detected LSD in a Mexican lysosomal NBS program (55%) (23) and a Dutch study (15) . Fabry disease was the most commonly reported LSDs in Japan (24) . Lastly, an Omani study reported late infantile NCL as the most common LSDs (18) .…”

Section: Discussionmentioning

confidence: 99%

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

Fahmy¹,

Abdelkreem²,

Mohamed³

et al. 2022

The Egyptian Journal of Hospital Medicine

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Background: Lysosomal storage disorders (LSDs) are a heterogeneous family of genetic diseases with a broad phenotypic spectrum. There is a paucity of data on LSDs from developing countries. Objective: We aimed to study the pattern, relative frequency, and phenotypic spectrum of LSDs in children at an Egyptian medical center. Patients and Methods: This study included children < 18 years with LSDs diagnosed and followed up at an Egyptian medical center from January 2018 to December 2021. Data were collected on patients' demographics, clinical features, characteristic metabolites, specific enzyme assay, and genetic testing. Results: Forty-two children (62% males, 74% parental consanguinity and 26% positive family history) were diagnosed with 10 different LSDs, representing 14% of all cases with inborn errors of metabolism (IEMs). The most frequent LSDs groups were mucopolysaccharidosis (MPS) (52.4%) and sphingolipidosis (40.8%). The most common individual diseases were MPS I (26.2%), Gaucher disease (23.8), MPS III (16.7%), and acid sphingomyelinase deficiency (11.9%). The median age at presentation was two years with a median diagnostic delay of 12 months. The most common clinical manifestations were delayed development, intellectual disability, visceromegaly, coarse facial features, and skeletal abnormalities. Finally, genetic data were available for only 12 patients (8 Gaucher disease, 3 MPS-III, and 1 MPS-VI). Conclusion: LSDs (most commonly MPS and Gaucher disease) represent an important part of IEMs at our medical center, and the diagnosis seems challenging and often delayed.

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“…The prevalence of GD in the United States and Europe is estimated to be approximately 1 in 100,000 [ 10 ], and 90% of these patients suffer from GD1 [ 11 ]. According to a recent nationwide survey in Japan, the prevalence of GD is estimated to be 1 in 530,000, and more than 50% of these patients have GD 2 or GD3 [ 12 ]. However, the actual prevalence of GD in Japan may be higher than this estimated prevalence considering undiagnosed patients.…”

Section: Introductionmentioning

confidence: 99%