Laguna Pawel, Szczepanska Maria, Wojdalska Magdalena, Bobrowska Halina, Kulik Joanna, Pietrys Danuta, Balwierz Walentyna, Trembecka-Dubel Elzbieta, Mlynarski Wojciech, Laguna Aleksandra
Department of Oncology, Pediatric Hematology, Trasplantology and Pediatrics, Medical University of Warsaw, Warsaw, Poland.
Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.
J Thromb Haemost. 2025 Feb;23(2):635-640. doi: 10.1016/j.jtha.2024.11.008. Epub 2024 Nov 26.
Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultrarare microvascular disease caused by the deficiency of the metalloprotease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin motifs 13). Approximately half of all cases remain undiagnosed until a triggering event in adulthood; therefore, the prevalence rates may be underestimated. The current standard of care is based on regular transfusions of fresh frozen plasma, which often lead to allergic reactions in patients. Recombinant ADAMTS13 (rADAMTS13) is a novel treatment for cTTP, which has been approved for use in the USA, Europe, and Japan.
The primary objective of this real-world data collection was to comprehensively analyze the clinical data of pediatric patients with cTTP and to provide real-world evidence of the effectiveness of rADAMTS13 treatment in the pediatric population.
Nine pediatric patients with cTTP were treated with an intravenous infusion of rADAMTS13 every 2 weeks.
The results showed an increase in platelet count and a decrease in lactate dehydrogenase levels compared with baseline. None of the patients experienced any adverse events or complications as a result of treatment. Patients reported an improved quality of life due to fewer hospital visits and a reduced number of recurrent episodes of cTTP.
Treatment with rADAMTS13 resulted in the normalization of laboratory parameters in all pediatric patients with cTTP.
先天性血栓性血小板减少性紫癜（cTTP）是一种极为罕见的微血管疾病，由金属蛋白酶ADAMTS13（含血小板反应蛋白基序的解聚素和金属蛋白酶13）缺乏所致。所有病例中约有一半在成年期出现触发事件之前仍未得到诊断；因此，患病率可能被低估。当前的治疗标准是基于定期输注新鲜冷冻血浆，但这常常导致患者出现过敏反应。重组ADAMTS13（rADAMTS13）是一种治疗cTTP的新型药物，已在美国、欧洲和日本获批使用。
本次真实世界数据收集的主要目的是全面分析cTTP患儿的临床数据，并提供rADAMTS13治疗在儿科人群中有效性的真实世界证据。
9例cTTP患儿每2周接受一次rADAMTS13静脉输注治疗。
结果显示，与基线相比，血小板计数增加，乳酸脱氢酶水平降低。所有患者均未因治疗出现任何不良事件或并发症。患儿报告称，由于就诊次数减少和cTTP复发次数减少，生活质量得到改善。
rADAMTS13治疗使所有cTTP患儿的实验室参数恢复正常。
