MIND Institute and Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA.
Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Sci Rep. 2018 Nov 19;8(1):16970. doi: 10.1038/s41598-018-34978-4.
Fragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual and developmental disabilities. Mavoglurant, a selective metabotropic glutamate receptor subtype-5 antagonist, has shown positive neuronal and behavioral effects in preclinical studies, but failed to demonstrate any behavioral benefits in two 12-week, randomized, placebo-controlled, double-blind, phase IIb studies in adults and adolescents with FXS. Here we report the long-term safety (primary endpoint) and efficacy (secondary endpoint) results of the open-label extensions. Adolescent (n = 119, aged 12-19 years) and adult (n = 148, aged 18-45 years) participants received up to 100 mg bid mavoglurant for up to 34 months. Both extension studies were terminated prematurely due to lack of proven efficacy in the core studies. Mavoglurant was well tolerated with no new safety signal. Five percent of adults and 16.9 percent of adolescents discontinued treatment due to adverse events. Gradual and consistent behavioral improvements as measured by the ABC-C scale were observed, which were numerically superior to those seen in the placebo arm of the core studies. These two extension studies confirm the long-term safety of mavoglurant in FXS, but further investigations are required to determine whether and under which conditions the significant preclinical results obtained with mGluR5 inhibition can translate to humans.
脆性 X 综合征 (FXS) 是最常见的遗传性智力和发育障碍的单基因病因。 mavoglurant 是一种选择性代谢型谷氨酸受体亚型 5 拮抗剂,在临床前研究中显示出积极的神经元和行为效应,但在两项为期 12 周、随机、安慰剂对照、双盲、IIb 期研究中未能显示出任何行为获益,该研究纳入了 FXS 成人和青少年患者。在此,我们报告了开放标签扩展的长期安全性(主要终点)和疗效(次要终点)结果。青少年(n=119,年龄 12-19 岁)和成年(n=148,年龄 18-45 岁)参与者接受 mavoglurant 100mg bid 治疗,最长达 34 个月。由于核心研究中缺乏已证实的疗效,这两项扩展研究均提前终止。mavoglurant 具有良好的耐受性,没有新的安全性信号。5%的成年患者和 16.9%的青少年患者因不良反应而停止治疗。ABC-C 量表测量的逐渐和一致的行为改善得到了观察,这些改善在数值上优于核心研究安慰剂组的改善。这两项扩展研究证实了 mavoglurant 在 FXS 中的长期安全性,但需要进一步研究以确定是否以及在何种条件下,mGluR5 抑制获得的重要临床前结果可以转化为人类。