Department of Pediatrics, Blood and Marrow Transplant Program, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
Blood. 2011 Aug 18;118(7):1971-8. doi: 10.1182/blood-2011-01-329235. Epub 2011 May 17.
Cerebral adrenoleukodystrophy (cALD) remains a devastating neurodegenerative disease; only allogeneic hematopoietic cell transplantation (HCT) has been shown to provide long-term disease stabilization and survival. Sixty boys undergoing HCT for cALD from 2000 to 2009 were analyzed. The median age at HCT was 8.7 years; conditioning regimens and allograft sources varied. At HCT, 50% demonstrated a Loes radiographic severity score ≥ 10, and 62% showed clinical evidence of neurologic dysfunction. A total of 78% (n = 47) are alive at a median 3.7 years after HCT. The estimate of 5-year survival for boys with Loes score < 10 at HCT was 89%, whereas that for boys with Loes score ≥ 10 was 60% (P = .03). The 5-year survival estimate for boys absent of clinical cerebral disease at HCT was 91%, whereas that for boys with neurologic dysfunction was 66% (P = .08). The cumulative incidence of transplantation-related mortality at day 100 was 8%. Post-transplantation progression of neurologic dysfunction depended significantly on the pre-HCT Loes score and clinical neurologic status. We describe the largest single-institution analysis of survival and neurologic function outcomes after HCT in cALD. These trials were registered at www.clinicaltrials.gov as #NCT00176904, #NCT00668564, and #NCT00383448.
脑肾上腺脑白质营养不良（cALD）仍然是一种毁灭性的神经退行性疾病；只有同种异体造血细胞移植（HCT）被证明能提供长期疾病稳定和生存。分析了 2000 年至 2009 年期间因 cALD 接受 HCT 的 60 名男孩。HCT 时的中位年龄为 8.7 岁；调理方案和同种异体移植物来源不同。在 HCT 时，50%的患者表现出 Loes 放射学严重程度评分≥10，62%的患者表现出神经功能障碍的临床证据。在 HCT 后中位数 3.7 年时，共有 78%（n=47）的患者存活。在 HCT 时 Loes 评分<10 的男孩 5 年生存率估计为 89%，而 Loes 评分≥10 的男孩为 60%（P=0.03）。在 HCT 时无临床脑疾病的男孩 5 年生存率估计为 91%，而有神经功能障碍的男孩为 66%（P=0.08）。移植后 100 天移植相关死亡率的累积发生率为 8%。移植后神经功能障碍的进展与 HCT 前的 Loes 评分和临床神经状态显著相关。我们描述了 cALD 后 HCT 生存和神经功能结果的最大单机构分析。这些试验在 www.clinicaltrials.gov 上注册为#NCT00176904、#NCT00668564 和#NCT00383448。
