X-linked Adrenoleukodystrophy
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Minoryx Therapeutics, S.L.
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1. Women aged 18 years old or older. 2. Diagnosis of X-linked ALD based on genetic testing, altered VLCFA levels, or family history. 3. Willing to undergo annual follow-up visits, including brain and spinal cord MRI scans. 4. Provision of written informed consent. 5. Affiliation or beneficiary of a French social security system or of such a regime.
Exclusion criteria
1. 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. 2. Under treatment or previous treatment with leriglitazone. 3. Pregnant or lactating women. 4. Subjects benefiting from laws aimed at protecting vulnerable adults: subjects being deprived of liberty by judicial or administrative decision, subjects under guardianship. 5. Participation in an interventional clinical trial.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Spinal cord magnetization transfer ratio (MTR) | Change from baseline up to 2 years | To assess the disease evolution on spinal cord MRI |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Spinal cord diffusion image analysis parameters: Fractional Anisotropy (FA), Radial Diffusivity (RD), Axial Diffusivity (AD), Mean Diffusivity (MD) at the cervical levels C1-C5. | Change from baseline up to 2 years | To assess the disease evolution on spinal cord MRI |
| 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). | Change from baseline up to 2 years | To assess the disease evolution on brain MRI |
| 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) | Change from baseline up to 2 years | To assess clinical evolution of myelopathy |
| Expanded Disability Status Scale (EDSS) | Change from baseline up to 2 years | To assess the impact on Quality of Life |
| Spinal cord morphometry. Cross sectional area (CSA) to cover the C1 to C7 vertebral levels. | Change from baseline up to 2 years | To assess the disease evolution on spinal cord MRI |
| Pain Visual Analogue Scale (Pain VAS) | Change from baseline up to 2 years | To assess the impact on Quality of Life |
| Monthly falls | Change from baseline up to 2 years | To assess the impact on Quality of Life |
| Short Form Health Survey (SF-36) | Change from baseline up to 2 years | To assess the impact on Quality of Life |
| Plasma biomarkers (NFL, MMP-9, IL-18, MIP-1beta and IL-1Ra) | Change from baseline up to 2 years | To assess the evolution of plasma biomarkers |
| Activities of Daily Living (ADL) | Change from baseline up to 2 years | To assess the impact on Quality of Life |
Countries
France
Contacts
Primary ContactArun Mistry
Outcome results
None listed