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Treatment for patients with Gaucher disease type 1 (GD1) currently involves replacement of the deficient enzyme, glucocerebrosidase (GC), with biweekly intravenous infusions of recombinant enzyme. An alternative approach is to partially inhibit glucosylceramide synthesis (GS) — the target for GC — with an oral glucose analogue, miglustat. However, neurotoxicity and diarrhea have limited the use of this agent.
To evaluate the efficacy and safety of eliglustat tartrate — a new, more-specific GS inhibitor — researchers conducted an industry-supported, international, phase II trial involving 16 women and 10 men (mean age, 34) with documented moderate or severe GC deficiency, most with splenomegaly, anemia, thrombocytopenia, and skeletal abnormal…