ArticleOrphanet journal of rare diseases2025
Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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Abstract
backgroundGaucher Disease (GD) is a lysosomal storage disorder. Mutations in the GBA1 gene cause glucocerebrosidase enzyme deficiency that leads to the accumulation of its substrates. Enzyme replacement therapy emerged as a natural history-changing treatment. Up to now, mainly measurable treatment targets have been investigated for patients. In this study, the number of real-life based and GD related events before and after ERT were evaluated for the first time to assess the impact of ERT on GD patients in real-life settings. The events investigated consist of hematopoietic, musculoskeletal, gastrointestinal, neurologic, respiratory system and growth and puberty-related events, as well as events related to routine daily activities, and malignancy.
resultsA total of 29 events were reported from 5 different group of events between - 12 to -6 months and 16 events from - 6 months to baseline in all patients. After the initiation of ERT, the number of new events decreased to 1 in 6-12 months. At the end of the follow-up period, between 30 and 36 months, only 1 new event was recorded, the minimum event number overall. For all groups of events, there was a trend to decrease of the events for overall follow-up period.
conclusionIn conclusion, this is the first study that evaluate event-based outcomes in GD patients receiving ERT and show the real-life data by evaluating not only laboratory parameters but also clinical consequences of the treatment, providing practical clinical follow up.
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