University researchers have discovered a treatment for advanced adrenoleukodystrophy (ALD), a rare but devastating disorder that affects the nerves of young boys.
The disease is a progressive degenerative disorder that destroys myelin—the insulation that covers nerves. ALD breaks down myelin over time, causing loss of hearing, sight, mobility, and general nerve function.
Without treatment, patients with ALD will die, usually within three to five years of diagnosis. There is no cure, but progression of the disease can be halted with a bone marrow transplant. In very advanced cases, however, a transplant is not recommended because patients often die within a year, despite transplantation.
In the current study, which appeared in the journal Bone Marrow Transplan-tation, University doctors found that an anti-inflammatory medication called N-acetyl L-cysteine (NAC) used in combination with transplantation halted disease progression in patients with severe ALD and allowed them to survive transplant.
“We believe NAC can also help patients with less advanced cases of ALD and possibly other diseases involving inflammation of the myelin,” says the study’s lead author, Lawrence Charnas, M.D., Ph.D., a pediatric neurologist at the University of Minnesota Children’s Hospital, Fairview. “This is a major step forward in treatment.”