Real Life Event-Based Outcomes of Patients With Gaucher Disease Receiving ERT

Purpose: Gaucher Disease (GD) is a lysosomal storage disease. Mutations in GBA1 gene cause glucocerebrosidase enzyme deficiency that leads accumulation of its substrates. Clinical presentations of GD are cytopenia, hepatosplenomegaly, bone involvement and neurological impairment. Besides; abdominal pain, painful bone crises, bleeding, growth retardation, delayed puberty, pulmonary involvement, fatigue are other manifestations. This study has revealed event-based outcomes in GD patients undergoing ERT to evaluate real-life data to assess the impact of ERT on GD patients' lives. Methods The events consist of hematopoietic system related events, musculoskeletal system related events, gastrointestinal system related events, growth and puberty related events, respiratory system related events, neurological system related, routine daily activities related events and tumoral formation. Events were collected starting from 1 year before and up to 3 years form initiation of ERT and all events were collected every 6 months periods. Results Total of 31 events were reported between − 12 to -6 months and 17 events from − 6 months to baseline in all patients. After the initiation of ERT, the number of events decreased to 10 in 6–12 months. At the end of the follow-up period, between 30–36 months, only 1 event was recorded, the minimum event number overall. For all groups, there was a trend to decrease or stabilization of the events. 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.