Cerebral X-Linked Adrenoleukodystrophy: The University of Minnesota Hematopoietic Cell Transplantation Experience from 1991 to 2004.

Hematopoietic cell transplantation (HCT) is the only effective long-term treatment for cerebral X-linked adrenoleukodystrophy (X-ALD), a beta-oxidation disorder of very-long-chain fatty acids. The most common cerebral phenotype of X-ALD has a median onset of 7 years and is characterized by adrenal insufficiency, disability, dementia and typically death within months to several years after clinical onset. The international HCT experience from 1982 to 1999 for cerebral X-ALD clearly demonstrated that baseline neurologic and neuropsychological function, degree of disability, and neuroradiologic status predicted outcomes following HCT [Peters C. et al. BLOOD2004;104:881]. The estimated 5-year survival varied with the number of neurologic deficits and the MRI severity score before HCT: 0 or 1 neurologic deficits and MRI severity score less than 9 (n=25), 92% (95% CI, 81%–100%); all other patients (n=37), 45% (95% CI, 23%–67%; P