1. ¹Division of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA
2. ²Division of Pediatric Clinical Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA

Correspondence: Dr J Tolar, Division of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, MMC 366, 420 Delaware Street SE, Minneapolis, MN 55455, USA. E-mail: tolar003@umn.edu

Received 5 October 2006; Revised 23 November 2006; Accepted 24 November 2006.

Abstract

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.