Danhardt Laura, Wiedemann Arnaud, Michel Gerard, Dalle Jean-Hugues, Rialland Fanny, Renard Cécile, Jubert Charlotte, Maertens Johan, Sirvent Anne, Buchbinder Nimrod, Devalck Christine, Brichard Bénédicte, Paillard Catherine, Nguyen Stephanie, Paci Angelo, Combarel David, Castelle Martin, Pagliuca Simona, Pochon Cecile
Pediatric Onco-Hematology Department Nancy University Hospital Nancy France.
Pediatric Intensive Care Department Nancy University Hospital, Unité INSERM u1256 N-GERE Nancy France.
EJHaem. 2024 Nov 26;5(6):1295-1300. doi: 10.1002/jha2.1056. eCollection 2024 Dec.
Mucopolysaccharidosis (MPS) requires urgent treatment to prevent neurological damage. While gene therapy holds promise for effectively treating these diseases with minimal toxicity, access remains limited for most patients. Consequently, advancing allogeneic hematopoietic stem cell transplantation (HSCT) for young children is crucial. Since the 2010s, cord blood (CB) transplants with reduced-toxicity conditioning (RTC) have become the standard of care.
Recent reports in France indicate a significant incidence of graft failures (GF), prompting a large-scale retrospective study from the French-speaking bone marrow transplantation society's registry, to understand GF risks, guide clinicians in selecting transplant platforms, and describe outcomes of second HSCT in young patients.
This report analyses 93 children who underwent HSCT for MPS between 2000 and 2020. The GF rate was notably high (22.6% at day 100), primarily associated with the donor's HLA compatibility and the recipient's age. Well-matched CB and RTC were not found to be risk factors for GF. This study also details the procedures for second and third transplants in patients who rejected their first HSCT.
In the era of RTC, CB remains a viable and expedient option for MPS transplantation.
黏多糖贮积症（MPS）需要紧急治疗以预防神经损伤。虽然基因治疗有望以最小的毒性有效治疗这些疾病，但大多数患者的治疗机会仍然有限。因此，推进幼儿的异基因造血干细胞移植（HSCT）至关重要。自2010年代以来，采用低毒性预处理（RTC）的脐血（CB）移植已成为标准治疗方法。
法国最近的报告显示移植物失败（GF）的发生率很高，促使法语骨髓移植协会登记处进行了一项大规模回顾性研究，以了解GF风险，指导临床医生选择移植平台，并描述年轻患者二次HSCT的结果。
本报告分析了2000年至2020年间接受HSCT治疗MPS的93名儿童。GF率显著较高（第100天时为22.6%），主要与供体的HLA相容性和受体年龄有关。未发现匹配良好的CB和RTC是GF的危险因素。本研究还详细介绍了首次HSCT失败患者的二次和三次移植程序。
在RTC时代，CB仍然是MPS移植的可行且便捷的选择。
