Cullufi Paskal, Tomori Sonila, Velmishi Virtut, Gjikopulli Agim, Akshija Ilir, Tako Aferdita, Dervishi Ermira, Hoxha Gladiola, Tanka Marjeta, Troja Erjon, Tabaku Mirela
Pediatric Department, University Hospital Center Mother Teresa, Tirana, Albania.
Statistics Department, University Hospital Center Mother Teresa, Tirana, Albania.
Front Pediatr. 2024 Feb 23;12:1352179. doi: 10.3389/fped.2024.1352179. eCollection 2024.
Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of Gaucher disease in children and adults.
This study aims to evaluate the long-term efficacy and safety of Taliglucerase alfa in children and adolescents with Type 1 Gaucher disease.
Over a six-year period, we monitored the efficacy of continuous treatment in 10 patients by assessing various parameters, including hemoglobin concentration, platelet count, liver and spleen volume, bone mineral density, glucosylsphingosine level, chitotriosidase activity, and growth parameters Safety was evaluated by immunogenicity and adverse event monitoring.
The mean age of patients was 13.4 ± 3.6 years and the treatment duration was 60.24 ± 13.4 months. From baseline to end line the parameters change as follows: hemoglobin concentration improved from 12.7 (±1.3) to 14.6 (±1.5) and platelet count from 180 (±74) to 198 (±79). The spleen volume, was reduced by 46% ( = 0,007). The chitotriosidase activity decreased from 4,019.7 (±3,542.0) nmoles/ml/hr to 2,039.5 (±1,372.2) nmoles/ml/hr (46% reduction). Glucoylsphingosine level dropped from 119.2 (±70.4) ng/ml to 86.2 (±38.1) ng/ml, indicating a reduction of 28%. Bone mineral density Z-score, improved from -1.47 (±1.76) to -0.46 (±0.99) (69.7% reduction). Out of the 1,301 total administrations, our patients reported only 37 (2.8%) infusion-related adverse events which were mild and transitory.
Taliglucerase alfa exhibits good efficacy and a safe profile in the treatment of children and adolescents with Type 1 Gaucher disease.
酶替代疗法已被公认为戈谢病患者治疗的金标准。塔利葡萄糖脑苷脂酶α是推荐用于治疗儿童和成人戈谢病的三种药物之一。
本研究旨在评估塔利葡萄糖脑苷脂酶α治疗1型戈谢病儿童和青少年的长期疗效和安全性。
在六年期间，我们通过评估包括血红蛋白浓度、血小板计数、肝脏和脾脏体积、骨密度、葡萄糖神经酰胺水平、壳三糖苷酶活性以及生长参数等各种参数，监测了10例患者持续治疗的疗效。通过免疫原性和不良事件监测评估安全性。
患者的平均年龄为13.4±3.6岁，治疗持续时间为60.24±13.4个月。从基线到终点，各项参数变化如下：血红蛋白浓度从12.7（±1.3）提高到14.6（±1.5），血小板计数从180（±74）提高到198（±79）。脾脏体积减少了46%（P = 0.007）。壳三糖苷酶活性从4,019.7（±3,542.0）纳摩尔/毫升/小时降至2,039.5（±1,372.2）纳摩尔/毫升/小时（降低46%）。葡萄糖神经酰胺水平从119.2（±70.4）纳克/毫升降至86.2（±38.1）纳克/毫升，降幅为28%。骨密度Z值从-1.47（±1.76）提高到-0.46（±0.99）（降低69.7%）。在总共1301次给药中，我们的患者仅报告了37例（2.8%）与输液相关的不良事件，这些事件轻微且短暂。
塔利葡萄糖脑苷脂酶α在治疗1型戈谢病儿童和青少年方面显示出良好的疗效和安全性。
