Observational Study on Disease Progression in Women With X-linked Adrenoleukodystrophy in France

What this Trial Is About

This research investigates disease progression in women diagnosed with X-linked adrenoleukodystrophy ALD through an observational, minimally interventional study conducted in France. Participants will be followed for at least two years or until they begin treatment for ALD or withdraw, with possible extension beyond two years based on interim findings. The study aims to gather detailed information on disease changes over time without altering prescribed clinical care. Participants will undergo yearly assessments, including MRI scans of the brain and spinal cord, and evaluations of body sway, disability status EDSS, daily living activities ADL, pain levels VAS, and quality of life SF-36 questionnaire. Blood samples will be collected to measure plasma biomarkers, and participants will maintain a monthly falls diary. These assessments will occur at baseline and annually, continuing with yearly visits if the study extends beyond two years. During the study, participants will complete questionnaires and undergo imaging and physical assessments at scheduled visits. Researchers will monitor changes in spinal cord magnetization transfer ratio, spinal cord and brain imaging parameters, body sway, disability, pain, falls frequency, quality of life, and specific plasma biomarkers over time. The study does not involve any specific drug or intervention and will not interfere with treatments prescribed by the participants healthcare providers.

Disease Progression in Women With X-linked Adrenoleukodystrophy