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Pediatric Transplants

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy


Hematopoietic stem cell transplantation as a treatment for childhood cerebral adrenoleukodystrophy (ALD) has historically only been successful in early disease. As ALD is associated with oxidative damage, we reasoned that adjunctive therapy with an antioxidant agent, N-acetyl-L-cysteine (NAC), may provide protection from rapid neurologic decline in boys with advanced cerebral disease. We report three boys with advanced ALD, whose neurologic status and brain radiographic findings were stabilized by treatment including NAC 8–11 months after hematopoietic stem cell transplantation. These results contrast with previous survival data in cerebral ALD patients who had a similar degree of brain involvement, all of whom died within 1 year of stem cell infusion despite a full donor engraftment. Thus, NAC merits investigation as a therapeutic strategy for patients with advanced ALD as an intervention that could change this lethal disease to a condition amendable to treatment with hematopoietic stem cell transplantation.

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The rationale for the use of NAC in this study was prompted by a phone call from J Powers, MD (University of Rochester School of Medicine and Dentistry, Department of Pathology and Laboratory Medicine, Rochester, NY, USA) in July, 2005. This study was supported by the Children's Cancer Research Fund.

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Correspondence to J Tolar.

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Tolar, J., Orchard, P., Bjoraker, K. et al. N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy. Bone Marrow Transplant 39, 211–215 (2007).

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  • adrenoleukodystrophy
  • N-acetyl-L-cysteine
  • peroxisomal disorder
  • hematopoietic stem cell transplantation

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