According to a study published in the Orphanet Journal of Rare Diseases, a study that was intended to identify a new approach to monitoring the progression of x-linked adrenoleukodystrophy in women has revealed that the progression of the disease was significantly slower than expected. The majority of women with this disease will eventually develop symptoms affecting the spinal cord that can only be treated supportively. The research also hoped to reveal the possibility of finding new disease biomarkers. The most commonly used biomarker for diagnosis does not change in about 20 percent of women.
Adrenoleukodystrophy is a genetic disease which is linked to the X chromosome. It is most characterized by the accumulation of fatty acids because the enzymes that process them are not functioning normally. This leads to damage of the myelin sheath, an insulating, fatty layer that coats nerve cells and is essential to their function. Adrenoleukodystrophy is caused by mutations that affect the ABCD1 gene. The presentation of this disease varies significantly. This makes the process of diagnosis very difficult in many cases. Some patients have no symptoms, but when they do appear, they often include neurodegeneration, paraparesis, neuropathy, behavioral abnormalities, adrenal insufficiency, and dementia. Symptoms often progress in severity without treatment. Treatment of adrenoleukodystrophy may include gene therapy, stem cell transplant, and changes in diet. These treatments are often only effective in the early stages of the disease. To learn more about adrenoleukodystrophy, click here.
About The Study
In the study, data from 64 baseline and 34 follow-up visits was analyzed. The study attempted to use multiple assessment tools in an attempt to determine if they could monitor progression of adrenoleukodystrophy. These tools include the Expanded Disability Status Scale (EDSS), the Short Form (36) Health Survey (SF-36), and the AMC Linear Disability Scale (ALDS). The study also tried a new approach in an attempt to decipher new biomarkers.
The research found that increased age and duration of symptoms was linked to greater degrees of disability. After a follow up period of around 8 years, the only measure that could monitor disease progression was the EDSS. However, the study found that the rate of progression over this period was not significant enough to be clinically useful. The study also found that a semi-targeted lipidomics method could be useful in finding new biomarkers for adrenoleukodystrophy in the future.