A clinical trial in twenty patients will determine whether drugs are effective for treating the X-linked adrenomyeloneuropathy, a rare disease.

IDIBELL researchers have proved that a combination of three antioxidants (N-acetyl Cysteine, Lipoic Acid and Vitamin E) reverses the main symptoms, such as the deterioration of the locomotor system, of a serious neurological disease called X-linked adrenoleukodystrophy. This research is the basis of a patent and a trial funded with 100,000 euro by the Ministry of Health. Its publication has already been accepted by the journal Annals of Neurology, which has advanced to issue an electronic version of the article.

The study was conducted in a model of mice that reproduce this disease. After receiving the cocktail of antioxidants, many of these animals achieved even a better physical condition than the healthy mice.

The X-linked adrenoleukodystrophy is a hereditary disease that destroys myelin (the white substance that covers nerves) of the peripheral or central nervous system and causes hormonal changes.  The disease is rare and only affects male individuals, although carrier female may also manifest some symptoms. Its incidence is one case per 17,000 men. It is the most common type of leukodystrophy and the main peroxisomal disorder (prixome is the part of the cell responsible for the elimination of toxic substances).

The research coordinated by Aurora Pujol, ICREA researcher and head of the Neurometabolic Diseases Lab of IDIBELL, raises some hope for the development treatments against the disease. The study establishes a direct connection between oxidative stress and axonal degeneration - a major factor in the development of the disease. Researchers have successfully tested a cocktail of antioxidants (N-acetyl Cysteine, Lipoic Acid and Vitamin E) that turns out to reverse the symptoms of adrenoleukodystrophy in genetically modified mice.