Eliglustat tartrate is an investigational oral substrate reduction therapy for 
Gaucher disease type 1 that is pharmacologically distinct from intravenous 
enzyme replacement therapy. Eliglustat tartrate improved clinical manifestations 
in patients who received 50 or 100 mg twice daily for 1 year during an 
open-label phase 2 study (Blood. 2010;116(6):893-899). We report further 
improvements after 2 years of treatment in 20 patients (11 females, 9 males; 
mean age, 33 years) with baseline splenomegaly and thrombocytopenia and/or 
anemia. Statistically significant (P < .001) percentage improvements from 
baseline occurred in platelet count (mean ± SD, 81% ± 56%), hemoglobin level 
(20% ± 15%), spleen volume (-52% ± 11%), and liver volume (-24% ± 13%). Mean 
platelet count increased ∼ 50 000/mm(3). Mean hemoglobin level increased 2.1 
g/dL overall and 3.1 g/dL in 10 patients with baseline anemia. Organ volume 
reductions were greatest in patients with severe baseline organomegaly. 
Seventeen (85%) patients met established therapeutic goals for ≥ 3 of the 4 
parameters. Lumbar spine bone mineral density increased 7.8% ± 10.6% (P = .01) 
and T-score 0.6 ± 0.8 (P = .012), with major gains in osteoporotic and 
osteopenic patients. Magnetic resonance imaging assessment showed that bone 
marrow infiltration by Gaucher cells was decreased (8/18 patients) or stable 
(10/18 patients). No safety-related trends emerged during 2 years of treatment. 
This multisite, open-label, single-arm phase 2 study is registered at 
www.clinicaltrials.gov as NCT00358150.