Disease Progression in Women With X-linked Adrenoleukodystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: X-linked Adrenoleukodystrophy. Basic parameters: from 18 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
An Observational Study to Assess Disease Progression in Women With X-linked Adrenoleukodystrophy
Overview
Observational, single-site prospective and minimally interventional study in women with X-linked adrenoleukodystrophy (ALD), conducted in France.
Detailed description
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.
Primary outcome measures
- Spinal cord magnetization transfer ratio (MTR) [Time frame: Change from baseline up to 2 years]
Secondary outcome measures (10)
- Spinal cord morphometry. Cross sectional area (CSA) to cover the C1 to C7 vertebral levels. [Time frame: Change from baseline up to 2 years]
- Spinal cord diffusion image analysis parameters: Fractional Anisotropy (FA), Radial Diffusivity (RD), Axial Diffusivity (AD), Mean Diffusivity (MD) at the cervical levels C1-C5. [Time frame: Change from baseline up to 2 years]
- Brain diffusion image analysis parameters: Fixel-Based analysis (FBA) (Fiber Density (FD), Fiber cross-section (FC) and combination of FD and FC), Diffusion tensor imaging (DTI) (FA, RD, AD, MD, Markers of severity and markers of evolution). [Time frame: Change from baseline up to 2 years]
- Body sway amplitude (considering antero-posterior and medio-lateral sway with eyes closed, feet apart; eyes open, feet apart; eyes closed, feet together; eyes open, feet together) [Time frame: Change from baseline up to 2 years]
- Expanded Disability Status Scale (EDSS) [Time frame: Change from baseline up to 2 years]
- Activities of Daily Living (ADL) [Time frame: Change from baseline up to 2 years]
- Pain Visual Analogue Scale (Pain VAS) [Time frame: Change from baseline up to 2 years]
- Monthly falls [Time frame: Change from baseline up to 2 years]
- Short Form Health Survey (SF-36) [Time frame: Change from baseline up to 2 years]
- Plasma biomarkers (NFL, MMP-9, IL-18, MIP-1beta and IL-1Ra) [Time frame: Change from baseline up to 2 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
France · 1 center
- Paris Brain Institute (ICM) Centre Hospitalier Universitaire Pitié Salpêtrière — Paris
Identifiers
NCT: NCT06178120 · MT-NH-01