[Efficacy and safety of eliglustat tartrate in adults with Gaucher disease type 1].

To evaluate the efficacy and safety of eliglustat tartrate in adult patients with Gaucher disease type 1 (GD1). Adult patients with GD1 confirmed at the First Medical Center of Chinese People's Liberation Army General Hospital were prospectively enrolled from October 2023 to June 2024. They received eliglustat tartrate capsules treatment (oral, 84 mg, twice daily) for 52 weeks. The changes in glucosylsphingosine (Lyso-GL1), hemoglobin and platelet count, liver and spleen volumes, multiples of normal (MN) of liver and spleen volumes were observed before and after treatment, and adverse reactions during treatment were recorded. A total of 5 adult patients with GD1 type were included, and all were identified as extensive metabolizers (EMs) via CYP2D6 genotyping. Following 52 weeks of treatment, Lyso-GL1 levels decreased apparently from baseline. Hemoglobin levels and platelet count also increased. Both liver and spleen volumes decreased, with corresponding reductions in MN. One patient reported mild nausea and anorexia, which resolved spontaneously within 2 d without other adverse events. Eliglustat tartrate demonstrates favorable efficacy and safety in these 5 adult GD1patients with EMs.