One-third of boys with adrenoleukodystrophy (ALD) will develop inflammatory brain lesions (ie, cerebral ALD [cALD]) in the first decade of life. These lesions begin small but grow steadily and insidiously before manifesting obvious clinical symptoms. A mere 3 decades ago, cALD resulted in certain death for these children. In the 1980s, brave (and desperate) families of children with cALD, as well as clinicians, having already exhausted many safer treatment alternatives, pioneered a new and risky treatment paradigm: hematopoietic stem cell transplant (HSCT). Some early reports suggested a miraculous cessation of disease progression,1 but only for some patients.2 What accounted for this disparity? Investigators eventually realized that patients with larger cerebral lesions at the time of transplant had poorer clinical outcomes.3,4 This observation, and the magnetic resonance imaging (MRI) severity scale that enabled it,5 established the current treatment paradigm, whereby patients with an MRI severity score of less than 10 (of a total possible score of 34) are considered most likely to benefit from a transplant. Today, an HSCT is the standard of care for boys with early-stage cALD.1,6
Van Haren K, Engelen M. Decision Making in Adrenoleukodystrophy: When Is a Good Outcome Really a Good Outcome? JAMA Neurol. 2017;74(6):641–642. doi:10.1001/jamaneurol.2017.0095
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