Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy

Adrenoleukodystrophy is a peroxisomal metabolic disorder that can be manifested by rapidly progressive cerebral demyelination (known as cerebral adrenoleukodystrophy) in affected boys and men.1 Untreated cerebral adrenoleukodystrophy causes severe disability or death approximately 2 years after its onset.1 During the 1990s, it was established that stabilization of cerebral adrenoleukodystrophy lesions may occur 6 to 12 months after successful allogeneic hematopoietic stem-cell transplantation, and this is currently the only effective treatment.2,3 Only patients who have early-stage cerebral adrenoleukodystrophy at the time of diagnosis (with early-stage disease defined as a Loes score4 of 9 or less, with scores ranging from 0 to . . .