Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert

Abstract

Abstract Background Gaucher 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. Results A 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. Conclusion In 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.

Keywords

• Gaucher
• Lysosomal storage diseases
• Enzyme replacement therapy