Mistry Pramod K, Lukina Elena, Ben Turkia Hadhami, Shankar Suma P, Baris Hagit, Ghosn Marwan, Mehta Atul, Packman Seymour, Pastores Gregory, Petakov Milan, Assouline Sarit, Balwani Manisha, Danda Sumita, Hadjiev Evgueniy, Ortega Andres, Gaemers Sebastiaan J M, Tayag Regina, Peterschmitt M Judith
Department of Internal Medicine and Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
Department of Orphan Diseases, National Research Center for Hematology, Moscow, Russia.
Am J Hematol. 2017 Nov;92(11):1170-1176. doi: 10.1002/ajh.24877. Epub 2017 Oct 3.
Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or extensive CYP2D6 metabolizers (>90% of patients). In the primary analysis of the Phase 3 ENGAGE trial (NCT00891202), eliglustat treatment for 9 months resulted in significant reductions in spleen and liver volumes and increases in hemoglobin concentration and platelet count compared with placebo. We report 18-month outcomes of patients who entered the trial extension period, in which all patients received eliglustat. Of 40 trial patients, 39 entered the extension period, and 38 completed 18 months. Absolute values and percent change over time were determined for spleen and liver volume, hemoglobin concentration, platelet count, bone mineral density, bone marrow burden, and Gaucher disease biomarkers. For patients randomized to eliglustat in the double-blind period, continuing treatment with eliglustat for 9 more months resulted in incremental improvement of all disease parameters. For patients randomized to placebo in the double-blind period, eliglustat treatment during the 9-month, open-label period resulted in significant decrease of spleen and liver volumes and significant increase of hemoglobin and platelets, with a similar rate of change to patients who had received eliglustat in the double-blind period. Eliglustat treatment was also associated with improvement in bone marrow burden score, bone mineral density, and established biomarkers of Gaucher disease, including reduction of the bioactive lipid, glucosylsphingosine. These findings underscore the efficacy of eliglustat in treatment-naïve patients. Eliglustat was well-tolerated, and there were no new safety concerns with longer-term exposure.
依利格鲁司他是一种口服底物还原疗法,是1型戈谢病(GD1)成年患者的一线治疗药物,这些患者为CYP2D6代谢能力差、中等或广泛的代谢者(超过90%的患者)。在3期ENGAGE试验(NCT00891202)的初步分析中,与安慰剂相比,依利格鲁司他治疗9个月可使脾脏和肝脏体积显著减小,血红蛋白浓度和血小板计数增加。我们报告了进入试验延长期患者的18个月结局,在此期间所有患者均接受依利格鲁司他治疗。40名试验患者中,39名进入延长期,38名完成了18个月的治疗。测定了脾脏和肝脏体积、血红蛋白浓度、血小板计数、骨密度、骨髓负担和戈谢病生物标志物的绝对值及随时间的变化百分比。对于在双盲期随机分配接受依利格鲁司他治疗的患者,继续使用依利格鲁司他治疗9个月可使所有疾病参数进一步改善。对于在双盲期随机分配接受安慰剂治疗的患者,在9个月的开放标签期接受依利格鲁司他治疗可使脾脏和肝脏体积显著减小,血红蛋白和血小板显著增加,变化率与在双盲期接受依利格鲁司他治疗的患者相似。依利格鲁司他治疗还与骨髓负担评分、骨密度改善以及戈谢病既定生物标志物的改善相关,包括生物活性脂质葡萄糖神经酰胺的减少。这些发现强调了依利格鲁司他在初治患者中的疗效。依利格鲁司他耐受性良好,长期暴露没有新的安全问题。