Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) with extensive, intermediate, or poor CYP2D6-metabolizer phenotypes (90% of patients). We report real-world outcomes after 2 years of eliglustat therapy in the International Collaborative Gaucher Group Gaucher Registry (NCT00358943). As of January 2019, baseline and 2-year data (±1 year) were available for 231 eliglustat-treated GD1 patients: 19 treatment-naïve (zero splenectomized) and 212 ERT patients who switched to eliglustat (36 splenectomized). Most patients (89%) were from the United States, where eliglustat was first approved. In treatment-naïve patients, mean hemoglobin increased from 12.4 to 13.4 g/dL (P =.004, n = 18), mean platelet count increased from 113 to 156 × 109/L (P <.001, n = 17); mean spleen volume decreased from 7.4 to 3.5 multiples of normal (MN) (P =.02, n = 7); mean liver volume remained normal (n = 7), and median spine Z-score was unchanged (−1.3 to −1.2, n = 6). In non-splenectomized switch patients, mean hemoglobin remained stable/non-anemic (n = 167); mean platelet count remained stable/normal (n = 165); mean spleen volume decreased from 3.3 to 2.8 MN (P <.001, n = 64); mean liver volume remained normal (n = 63), and median lumbar spine Z-score improved from −0.7 to −0.4 (P =.014, n = 68). In splenectomized switch patients, mean hemoglobin remained stable/non-anemic (n = 31); mean platelet count increased from 297 to 324 × 109/L (non-significant, n = 29); mean liver volume remained normal (n = 13); median spine Z-score improved from −0.8 to −0.6 (non-significant, n = 11). Median chitotriosidase decreased in all groups (P <.01 for all). These real-world results are consistent with eliglustat clinical trial results demonstrating long-term benefit in treatment-naïve patients and stability in ERT switch patients.
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