Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy

What this Trial Is About

X-linked adrenoleukodystrophy (X-ALD) is a hereditary disorder affecting the white matter in the brain and spinal cord due to mutations in the ABCD1 gene. This leads to an accumulation of very long chain fatty acids (VLCFA) that damage the central nervous system. The most common adult form, adrenomyeloneuropathy (AMN), causes symptoms like progressive muscle stiffness, balance problems, bladder and sexual difficulties. Although X-ALD is inherited in an X-linked manner, research shows that up to 80% of women who carry the gene develop symptoms during their lifetime. This observational study aims to assess how many female carriers of X-ALD show symptoms of AMN and to understand how these symptoms affect their quality of life, including daily activities, work, social life, sleep, sexuality, and mood. Participants complete self-report questionnaires available in multiple languages through an online platform created by the European Leukodystrophies Association. Women aged 18 or older with confirmed X-ALD are invited to participate by filling out questionnaires online. Researchers will measure the number of participants with AMN symptoms using a clinical score and compare quality of life between symptomatic and asymptomatic women. The study collects this information at the beginning (Day 0) and aims to gather data on how AMN symptoms impact different areas of life, helping to better understand the condition in female carriers.

Quality of Life in Women with X-linked Adrenoleukodystrophy