Zhu Diqi, Zhu Jiacong, Qiu Wenjuan, Wang Benzhen, Liu Lin, Yu Xiaodan, Ou Zhenheng, Shan Guangsong, Wang Jian, Li Bin, Chen Xiaokang, Liu Cong, Li Zipu, Fu Lijun
Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Pediatrics, The Second Hospital of Jiaxing, Jiaxing, China.
Front Pharmacol. 2022 Jun 27;13:903488. doi: 10.3389/fphar.2022.903488. eCollection 2022.
A high prevalence of infantile-onset Pompe disease (IOPD) in the Chinese population has been noted, but there are currently no reported clinical trials of enzyme replacement therapy (ERT) for IOPD in this population The purpose of this study was to evaluate the efficacy and safety of alglucosidase alfa in Chinese patients with IOPD. A multicentre, single-arm, prospective, open-label clinical trial was performed at 4 sites in China. Eligible Chinese subjects with IOPD received an infusion of alglucosidase alfa at a dose of 20 mg/kg every 2 weeks for up to 52 weeks. The primary endpoints of clinical efficacy were the survival rate and changes in the left ventricular mass index (LVMI). The safety assessment was based on the incidence of adverse events (AEs). A total of 10 eligible subjects were enrolled in the study. The mean age at the start of ERT was 5.36 ± 1.56 months. Nine subjects had survived after 52 weeks of treatment. One subject discontinued the study and died after mechanical ventilation was withdrawn. The intent-to-treat analysis demonstrated that the survival rate was 90.0% (95% confidence interval: 55.5-99.7%). The mean LVMI at week 52 was 70.59 ± 39.93 g/m compared to that of 298.02 ± 178.43 g/m at baseline, with a difference of -227.60 ± 155.99 g/m. All subjects had left ventricular mass (LVM) Z scores >10 at baseline, and eight subjects (80%) achieved Z scores <5 at week 52. No treatment-related AEs were observed, and no AEs led to the discontinuation of treatment. This clinical trial is the first study of ERT for IOPD in China, indicating that alglucosidase alfa has favourable efficacy and safety for the treatment of Chinese patients with IOPD (ClinicalTrials.gov number, NCT03687333).
已注意到中国人群中婴儿型庞贝病（IOPD）的高患病率，但目前尚无该人群中针对IOPD的酶替代疗法（ERT）的临床试验报告。本研究的目的是评估阿糖苷酶α在中国IOPD患者中的疗效和安全性。在中国的4个地点进行了一项多中心、单臂、前瞻性、开放标签的临床试验。符合条件的中国IOPD受试者每2周接受一次剂量为20mg/kg的阿糖苷酶α输注，持续长达52周。临床疗效的主要终点是生存率和左心室质量指数（LVMI）的变化。安全性评估基于不良事件（AE）的发生率。共有10名符合条件的受试者入组该研究。ERT开始时的平均年龄为5.36±1.56个月。9名受试者在治疗52周后存活。1名受试者退出研究并在撤机后死亡。意向性分析表明，生存率为90.0%（95%置信区间：55.5-99.7%）。第52周时的平均LVMI为70.59±39.93g/m，而基线时为298.02±178.43g/m，差值为-227.60±155.99g/m。所有受试者在基线时左心室质量（LVM）Z评分>10，8名受试者（80%）在第52周时Z评分<5。未观察到与治疗相关的AE，也没有AE导致治疗中断。这项临床试验是中国首次针对IOPD的ERT研究，表明阿糖苷酶α对治疗中国IOPD患者具有良好的疗效和安全性（ClinicalTrials.gov编号，NCT03687333）。
