What this Trial Is About

X-linked adrenoleukodystrophy (X-ALD) is a hereditary disorder affecting the white matter of the brain and spinal cord due to genetic mutations that disrupt fatty acid metabolism. This leads to harmful buildup of very long chain fatty acids in the body, causing damage to the nervous system. The most common form in adults is adrenomyeloneuropathy (AMN), which progresses slowly and affects movement, sensation, bladder, and sexual function. Although X-ALD is inherited in an X-linked pattern, research shows that up to 80% of female carriers develop symptoms during their lifetime. This study focuses on female carriers of X-ALD aged 18 years or older to evaluate how often they experience symptoms of AMN and how these symptoms affect their quality of life. Participants complete self-report questionnaires available in multiple languages through an online platform called Leuconnect, supported by the European Leukodystrophies Association. There are no experimental treatments or interventions involved; the study collects data through these questionnaires. Participants are asked to provide informed consent and then fill out questionnaires assessing their symptoms and quality of life in areas such as daily activities, work, social life, sleep, sexuality, and mood. The main outcomes measured include the number of women reporting AMN symptoms using the Adult ALD Clinical Score and comparisons of quality of life between those with and without symptoms using the SF-36 questionnaire. This study helps understand the impact of X-ALD on women carriers' lives without requiring in-person visits or medical procedures.

Quality of Life in Women with X-linked Adrenoleukodystrophy