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Abstract
One option currently available for the treatment of type 1 Gaucher disease (GD) is substrate reduction
therapy (SRT) by eliglustat. This therapy has recently been approved and data on its effectiveness
in Argentina are not available. The objective of the study was to evaluate the effectiveness of eliglustat
used during 6 years in adult patients with GD in three centers of Argentina. Twenty-two patients
≥18 years with GD admitted to the phase III clinical trial ENCORE (NCT00943111) and followed for at
least 6 years were included. For the analysis, patient follow-up was separated into three stages: 1) stage 1
comprised the period of patient randomization and follow-up during 12 months. 2) stage 2, comprised
the time between the 12 months and the 4 years of follow-up (extension of the ENCORE study); 3) stage
3, "real life", included the follow-up of patients who continued for 2 years in treatment with eliglustat and obtained data recorded by treating physicians during the follow-up outside the clinical trial. The main outcome evaluated consisted in the sustain of therapeutic goals (TG). With a follow-up time of 6.3 years (2 years out of the ENCORE study), all patients under treatment with eliglustat maintained the TG.
The bone lesions after 6 years of follow-up remained stable without new acute lesions or pain crises.
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