Continuing with more than a decade of research, doctors at the University of Minnesota have discovered a treatment to help patients with advanced cases of adrenoleukodystrophy (ALD), a rare disorder affecting the nerves. The results are published in the late February issue of Bone Marrow Transplantation.
ALD is a progressive degenerative myelin disorder that affects young boys. Myelin is the "insulation" around the nerves and with ALD it breaks down over time and causes loss of hearing, sight, mobility, and general nerve function. Left untreated, patients with ALD will die, usually within three to five years of diagnosis. There is no cure, but the progression of the disease can be halted with a bone marrow transplant. However, in very advanced cases, transplant is not recommended because patients die within a year despite transplantation.
Doctors began giving patients with very advanced ALD who would not otherwise be eligible for transplant, a medication called N-acetyl L-cysteine (NAC), an anti-inflammatory drug used to help liver cells recover from Tylenol® (acetaminophen) overdose. In these advanced cases, the combination of NAC and transplant halted the disease progression and allowed these patients to survive transplant. Post transplant brain scans showed a decrease in inflammation and preservation of myelin after administering NAC.
"We believe that NAC can also help patients with less advanced cases of ALD, and possibly other diseases of inflammation of the myelin," said Lawrence Charnas, M.D., Ph.D., senior author and pediatric neurologist at the University of Minnesota Children's Hospital. "This is a major step forward in treating a devastating disease."
The University of Minnesota Children's Hospital is among the world's leaders in treating children with ALD and other metabolic storage diseases. This research was funded by the Children's Cancer Research Fund and the University of Minnesota Department of Pediatrics.