Disease Progression in Women With X-linked Adrenoleukodystrophy

Patients accepting participation (after signing ICF) will be followed up to at least 2 years or until they started treatment for X-linked adrenoleukodystrophy (ALD) or withdraw consent, whichever occurs first. Follow-up will be extended beyond 2 years if deemed appropriate after an interim report. Tests and questionnaires will be assessed at baseline and yearly. If the study is extended, beyond 2 years, patients will be assessed at 1-year intervals.

At baseline visit and follow-up visits, patients will undergo an MRI of the brain and the spinal cord and assessments of body sway, EDSS, ADL, pain VAS and SF-36 questionnaire. Plasma biomarkers will be assessed from samples obtained through routine blood draw and a monthly falls diary will be provided each visit to be completed once a month.

This study will not assess any specific medicinal product or intervention, and the study will not interfere with that prescribed in clinical practice.

Inclusion criteria

• Women aged 18 years old or older.
• Diagnosis of X-linked ALD based on genetic testing, altered VLCFA levels, or family history.
• Willing to undergo annual follow-up visits, including brain and spinal cord MRI scans.
• Provision of written informed consent.
• Affiliation or beneficiary of a French social security system or of such a regime.

Exclusion criteria

• Any condition that in the opinion of the investigator are likely to adversely affect the study participation, interfere with study compliance, or confound the study results.
• Under treatment or previous treatment with leriglitazone.
• Pregnant or lactating women.
• Subjects benefiting from laws aimed at protecting vulnerable adults: subjects being deprived of liberty by judicial or administrative decision, subjects under guardianship.
• Participation in an interventional clinical trial.