Abstract
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. 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.>
