Abstract：
OBJECTIVE: We investigated the safety and efficacy of haploidentical stem cell transplantation (SCT) in pediatric patients with X-linked adrenoleukodystrophy (ALD).
METHODS: A retrospective analysis of transplantation data from 29 cases of ALD, treated between December 2014 and April 2022, was conducted. Neurologic function scores (NFS) were assessed. The conditioning regimen was busulfan 9.6 mg/kg, cyclophosphamide 200 mg/kg, and fludarabine 90 mg/m2 (BFC). Graft-versus-host disease prophylaxis consisted of anti-human thymocyte globulin, cyclosporine A, mycophenolate mofetil, and short course of methotrexate.
RESULTS: Among the 29 cases, 14 cases (NFS = 0) were asymptomatic, and 15 (NFS ≥ 1) were symptomatic. The median age at SCT was 8 years (range: 4-16 years); the median follow-up time was 1058 days (range: 398-3092 days); 28 cases were father donors and 1 case was a grandfather donor. Hematopoietic reconstitution was successful in all patients, and all of them achieved complete donor chimerism at the time of engraftment. The leading cause of death was still primary disease progression (n = 4). Survival free of major functional disabilities was 100% in asymptomatic patients versus 66.67% in the symptomatic group (p = .018).
CONCLUSIONS: BFC regimen used in haploidentical SCT was administered safely without major transplant-related complications even in symptomatic patients, and neurological symptoms were stabilized after SCT.
METHODS: A retrospective analysis of transplantation data from 29 cases of ALD, treated between December 2014 and April 2022, was conducted. Neurologic function scores (NFS) were assessed. The conditioning regimen was busulfan 9.6 mg/kg, cyclophosphamide 200 mg/kg, and fludarabine 90 mg/m2 (BFC). Graft-versus-host disease prophylaxis consisted of anti-human thymocyte globulin, cyclosporine A, mycophenolate mofetil, and short course of methotrexate.
RESULTS: Among the 29 cases, 14 cases (NFS = 0) were asymptomatic, and 15 (NFS ≥ 1) were symptomatic. The median age at SCT was 8 years (range: 4-16 years); the median follow-up time was 1058 days (range: 398-3092 days); 28 cases were father donors and 1 case was a grandfather donor. Hematopoietic reconstitution was successful in all patients, and all of them achieved complete donor chimerism at the time of engraftment. The leading cause of death was still primary disease progression (n = 4). Survival free of major functional disabilities was 100% in asymptomatic patients versus 66.67% in the symptomatic group (p = .018).
CONCLUSIONS: BFC regimen used in haploidentical SCT was administered safely without major transplant-related complications even in symptomatic patients, and neurological symptoms were stabilized after SCT.
摘要：
目的：我们研究了单倍体相合干细胞移植（SCT）在X连锁肾上腺脑白质营养不良（ALD）患儿中的安全性和有效性。
方法：回顾性分析29例ALD患者的移植资料。在2014年12月至2022年4月期间进行了治疗。评估神经功能评分（NFS）。调理方案为白消安9.6mg/kg，环磷酰胺200mg/kg,和氟达拉滨90mg/m2(BFC)。移植物抗宿主病预防包括抗人胸腺细胞球蛋白，环孢菌素A,霉酚酸酯，和短程甲氨蝶呤。
结果：29例中，14例(NFS=0)无症状，15（NFS≥1）有症状。SCT的中位年龄为8岁（范围：4-16岁）；中位随访时间为1058天（范围：398-3092天）；28例为父亲捐赠者，1例为祖父捐赠者。所有患者的造血重建都是成功的，在植入时，它们都实现了完全的供体嵌合。死亡的主要原因仍然是原发性疾病进展（n=4）。无症状患者无主要功能障碍的生存率为100％，有症状组的生存率为66.67％（p=0.018）。
结论：在单倍体SCT中使用BFC方案是安全的，即使在有症状的患者中也没有重大的移植相关并发症，SCT后神经系统症状稳定。
方法：回顾性分析29例ALD患者的移植资料。在2014年12月至2022年4月期间进行了治疗。评估神经功能评分（NFS）。调理方案为白消安9.6mg/kg，环磷酰胺200mg/kg,和氟达拉滨90mg/m2(BFC)。移植物抗宿主病预防包括抗人胸腺细胞球蛋白，环孢菌素A,霉酚酸酯，和短程甲氨蝶呤。
结果：29例中，14例(NFS=0)无症状，15（NFS≥1）有症状。SCT的中位年龄为8岁（范围：4-16岁）；中位随访时间为1058天（范围：398-3092天）；28例为父亲捐赠者，1例为祖父捐赠者。所有患者的造血重建都是成功的，在植入时，它们都实现了完全的供体嵌合。死亡的主要原因仍然是原发性疾病进展（n=4）。无症状患者无主要功能障碍的生存率为100％，有症状组的生存率为66.67％（p=0.018）。
结论：在单倍体SCT中使用BFC方案是安全的，即使在有症状的患者中也没有重大的移植相关并发症，SCT后神经系统症状稳定。
