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Orphanet Journal of Rare Diseases

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Open Access 01-12-2023 | Gaucher Disease | Review

Patient-reported outcomes in Gaucher’s disease: a systematic review

Authors: Junchao Feng, Zhongchun Gao, Zhao Shi, Yue Wang, Shunping Li

Published in: Orphanet Journal of Rare Diseases | Issue 1/2023

Abstract

Background

Gaucher’s disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone infarction, thereby culminating in a marked deterioration of patients’ quality of life (QoL). Patient-reported outcomes (PROs) offer valuable insights into the impact of GD on patients’ QoL and symptoms. This systematic review aimed to identify and analyze PROs and outcome measures in GD patients.

Methods

We systematically searched PubMed, Web of Science Core Collections, EMBASE, SCOPUS, Cochrane Library, PsycINFO, Wan Fang Data, China National Knowledge Infrastructure (CNKI), and the Chinese Biomedical Literature Database (CBM). The methodological quality of the included studies was assessed using a mixed methods assessment tool.

Results

A total of 33 studies were identified, encompassing 24 distinct patient-reported outcome instruments, with the most frequently employed instrument being the SF-36. The study designs included eighteen cross-sectional studies, seven pre- and post-intervention investigations, three randomized controlled trials, two cohort studies, two qualitative inquiries, and one validation study. These studies explored diverse domains such as the QoL and cardinal symptoms (e.g., fatigue, pain, bleeding, cognition, social relationships, and psychological functioning) in patients with GD. Furthermore, significant attention was directed towards the appraisal of the therapeutic benefits of various interventions in patients with GD. A novel GD-specific instrument has also been developed, which has two applied versions: a 24-item variant for routine clinical monitoring and a 17-item form for use in clinical trials.

Conclusion

PROs have garnered increased attention and concern in the realm of GD. Despite this progress, it is noteworthy that the instruments used to measure PROs in GD are still predominantly generic instruments. While researchers have endeavored to develop and validate a disease-specific instrument, currently the use of this instrument is limited. Owing to several challenges, including the small number of patients, heterogeneity of the disease, and cross-regional discrepancies in study findings, GD poses substantial difficulties in the measurement of QoL and development of instruments. Consequently, patients with GD require more dependable measurement instruments that accurately reflect their QoL, efficacy of treatment, and facilitate healthcare decision-making.

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Title: Patient-reported outcomes in Gaucher’s disease: a systematic review
Authors: Junchao Feng
Zhongchun Gao
Zhao Shi
Yue Wang
Shunping Li
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Gaucher Disease
Gaucher Disease
Fatigue
Published in: Orphanet Journal of Rare Diseases / Issue 1/2023
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-023-02844-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Patient-reported outcomes in Gaucher’s disease: a systematic review

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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