Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

Dinur, Tama; Istaiti, Majdolen; Frydman, Dafna; Becker‐Cohen, Michal; Szer, Jeff; Zimran, Ari; Revel‐Vilk, Shoshana

doi:10.1186/s13023-020-01544-z

Cited by 16 publications

(16 citation statements)

References 35 publications

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“…Currently, the effective therapy for GD patients, such as enzyme replacement therapy and substrate reduction therapy, which must be administered continually, are extremely costly for patients and caregivers [ 8 , 9 ]. Further, caregivers may experience workdays loss, absenteeism, and job changes while caring for their patients [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Economic burden and health related quality of life of ultra-rare Gaucher disease in China

Shan

et al. 2021

Orphanet J Rare Dis

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Background The diagnosis and health care of patients with rare diseases present a tremendous challenge worldwide. This study described the health care service utilization through participants’ perspective and estimated the cost of illness (COI), and patients with Gaucher disease (GD)’s/caregivers’ health-related quality of life in China. Method An online retrospective survey of patients with GD and their caregivers was conducted during May–June 2018. Socio-demographic, health service utilization, disease-related expenses, social support, sleep quality (Pittsburgh Sleep Quality Index [PSQI]), and the Short Form Health Survey (SF-36) were investigated. Using self-reported information, we estimated the annual COI, including direct healthcare, direct non-healthcare, and indirect costs. Results Forty patients and their 49 caregivers were surveyed. The patients’ onset age of GD was 9.3 ± 10.9; their disease course was 3.5 ± 3.1 years. 21 (42.9%) patients had ≥ 2 caregivers, but 35 (71.4%) caregivers reported have no experience as a caregiver. 79.6% caregivers have stopped working, and 87.8% changed weekly working schedule. Before final diagnosis, patients visited 3.9 ± 3.1 (max = 20) hospitals and took 1.2 ± 1.7 (max = 6.6) years for confirmed diagnosis. On average, 5.0 ± 9.6 misdiagnoses occurred, and the per-patient diagnoses cost was USD ($) 7576. After GD confirmation, 8 (16.3%) patients received no treatment, 40 (81.6%) received pharmacotherapy, 10 (20.4%) received surgery, 38 (77.6%) received outpatient service (8.8 ± 9.1 times/annually), and 37 (77.5%) received inpatient service (4.0 ± 3.5 times/annually). Annual per-patient COI was USD ($) 49,925 (95% confidence interval: 29,178, 70,672). Average direct healthcare cost was $41,816, including pharmaceutical ($29,908), inpatient ($7,451), and outpatient ($1,838). Productivity loss per-caregiver was $1,980, and their Zarit Burden Inventory score was moderate-severe (48.6 ± 19.6). Both patients/caregivers reported lower social support (32.4 ± 7.4, 34.9 ± 7.6), two times higher PSQI (7.9 ± 2.9, 8.7 ± 3.6), and half lower SF-36 (41.3 ± 18.6, 46.5 ± 19.3) than those reported for healthy Chinese individuals. Conclusions The high misdiagnosis rate, together with delayed diagnosis, substantial costs, and deteriorated health-related quality of life of GD patients as well as their heavy care burden, calls for extreme attention from policymakers in China. Further efforts of government and society are urgently demanded, including pharmaceutical reimbursement, screening newborns, developing precise diagnostic tools, and training doctors.

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Section: Introductionmentioning

confidence: 99%

Economic burden and health related quality of life of ultra-rare Gaucher disease in China

Shan

et al. 2021

Orphanet J Rare Dis

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“…The results of this analysis have confirmed the need to include additional questions in the current PROM questionnaires that address the impact of neurological symptoms, the burden caused by these symptoms, and patient needs related to social support systems. The current questionnaire for patients with type 1 GD has no questions related to current symptoms, including neurological symptoms, caused by GD [ 13 , 14 ]. As patients with types 2 and 3 GD are generally younger than those with type 1, this study has also provided insights into the burden associated with GD that may be specific to the daily lives of younger patients.…”

Section: Discussionmentioning

confidence: 99%

“…Despite the importance of QOL in the management of patients with GD, limited information is available on the burden of nGD in patients and caregivers, as qualitative studies conducted to date have almost exclusively included patients with type 1 GD [ 9 – 11 ]. Although GD-specific patient-reported outcome measures (PROMs) have been developed, these questionnaires are focused on patients with type 1 GD [ 12 – 14 ] and are not suitable for capturing symptoms and comorbidities of patients with nGD. In addition, although a caregiver-reported outcome measure is currently under development for other lysosomal diseases, there is no such tool for caregivers of patients with GD [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

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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“…25 In a first study of GD-specific patient-reported outcome in a relatively large cohort of adult patients, we have recently reported that despite the known association between GD and cancer, mainly myeloma, almost two-thirds of patients reported a lack of concern about this risk. 26 The use of PC is based on the recognition that beyond a glycolipid storage disease, GD is also a protein-misfolding disorder, 27 and the proof of concept was reported in 2013. 28 Unfortunately, because ambroxol is inexpensive and exists in different generic formulations, a formal pharmaceutical company-sponsored clinical trial has not been performed.…”

Section: Case Report Part 4: Gd and Monoclonal Gammopathy Of Undetermined Significancementioning

confidence: 99%

A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact

2020

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Patients with Gaucher disease (GD), a rare autosomal recessive glycosphingolipid storage disease, commonly present to hematologists with unexplained splenomegaly, thrombocytopenia, anemia, and bone symptoms. Patients with GD may develop other manifestations, such as autoimmune thrombocytopenia, monoclonal gammopathy, multiple myeloma, or, even more rarely, other hematological malignancies; sometimes they are first diagnosed during an assessment of those disorders. Although the diagnosis and management of patients with GD have significantly evolved over the last 30 years, some patients remain poor responders to GD-specific therapy, needing novel and investigational therapies. Ideally, patients with GD, like patients with other rare diseases, should be managed by a multidisciplinary team expert with the diverse clinical manifestations and potential GD-related or -unrelated comorbidities. The hematology community should be knowledgeable regarding the presentation and the variety of hematologic complications and comorbidities associated with Gaucher disease.

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Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

Cited by 16 publications

References 35 publications

Economic burden and health related quality of life of ultra-rare Gaucher disease in China

Economic burden and health related quality of life of ultra-rare Gaucher disease in China

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

A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact

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