Hematopoietic stem cell transplantation (HSCT) can arrest the progression of the childhood or adolescent cerebral forms of X-linked adrenoleukodystrophy (X-ALD), provided that it is administered when the disorder is still in its early stage. This was first demonstrated by Aubourg et al1 in 1990. Shapiro et al2 demonstrated that the stabilization can persist for 5 to 10 years. The most comprehensive follow-up study is that of Peters et al3 who reported on the outcome of 126 patients with childhood cerebral X-ALD who had received HSCT between 1982 and 1999. They showed that the disease stage at time of HSCT has a striking effect on outcome. Five-year survival was 92% in mildly involved patients (0 or 1 neurological deficits and a score of <9 on the 34-point magnetic resonance imaging severity score designed by Loes et al).4 In patients who underwent transplantation at a more advanced stage, 5-year survival was only 45%. Because of the paucity of historical control data for the mildly involved patients, Mahmood et al5 analyzed the survival function and clinical progression in 246 patients with childhood cerebral X-ALD who had been followed up at the Kennedy Krieger Institute during the same period and who had not received transplants. The mean 5-year survival was 54%. Patients were retrospectively assigned to the “mild” and “advanced” categories in accordance with the criteria set by Peters et al. The 5-year survival in the nontransplanted mild group was 61%, compared with 92% in the transplanted mild group. There was striking difference in functional outcome. Five years after onset, 93% of the surviving nontransplanted group had progressed severely and were totally disabled (A.M., unpublished data, 2005) whereas 53% of the transplanted “mild” group had remained entirely stable in respect to neurological and cognitive function.3 These results support the contention that HSCT benefits patients with mild cerebral involvement.
Moser HW, Mahmood A. New Insights About Hematopoietic Stem Cell Transplantation in Adrenoleukodystrophy. Arch Neurol. 2007;64(5):631-632. doi:10.1001/archneur.64.5.631