Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment

Abstract

Eliglustat is an investigational, oral substrate reduction therapy for Gaucher disease type 1 (GD1). Nineteen treatment-naïve patients have now completed 4 years of an open-label study (NCT00358150). Mean hemoglobin level and platelet count increased by 2.3 ± 1.5 g/dL (baseline: 11.3 ± 1.5 g/dL) and 95% (baseline: 68,700 ± 21,200/mm³), respectively. Mean spleen and liver volumes (multiples of normal, MN) decreased by 63% (baseline: 17.3 ± 9.5 MN) and 28% (baseline: 1.7 ± 0.4 MN), respectively. Median chitotriosidase and CCL-18 each decreased by 82%; plasma glucosylceramide and GM3 normalized. Mean bone mineral density T-score for the lumbar spine increased by 0.8 (60%) (baseline: − 1.6 ± 1.1). Femur dark marrow, a reflection of Gaucher cell infiltration into bone marrow, was reduced or stable in 17/18 patients. There were no bone crises. Most adverse events were mild and unrelated to treatment. These results extend the safety and efficacy of eliglustat reported at 1 and 2 years to 4 years.