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Observational, single-site prospective and minimally interventional study in women with X-linked adrenoleukodystrophy (ALD), conducted in France.
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Spinal cord magnetization transfer ratio (MTR) | To assess the disease evolution on spinal cord MRI | Change from baseline up to 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Spinal cord morphometry. Cross sectional area (CSA) to cover the C1 to C7 vertebral levels. | To assess the disease evolution on spinal cord MRI | 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. |
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Inclusion Criteria:
Exclusion Criteria:
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The study will include up to 40 adult women with X-linked ALD who attend to a regular visit, who meet all inclusion criteria and none of the exclusion criteria.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Arun Mistry | Contact | +34935441466 | amistry@minoryx.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Paris Brain Institute (ICM) Centre Hospitalier Universitaire Pitié Salpêtrière | Recruiting | Paris | 75013 | France |
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| ID | Term |
|---|---|
| D000326 | Adrenoleukodystrophy |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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To assess the disease evolution on spinal cord MRI |
| 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). | To assess the disease evolution on brain MRI | 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) | To assess clinical evolution of myelopathy | Change from baseline up to 2 years |
| Expanded Disability Status Scale (EDSS) | To assess the impact on Quality of Life | Change from baseline up to 2 years |
| Activities of Daily Living (ADL) | To assess the impact on Quality of Life | Change from baseline up to 2 years |
| Pain Visual Analogue Scale (Pain VAS) | To assess the impact on Quality of Life | Change from baseline up to 2 years |
| Monthly falls | To assess the impact on Quality of Life | Change from baseline up to 2 years |
| Short Form Health Survey (SF-36) | To assess the impact on Quality of Life | Change from baseline up to 2 years |
| Plasma biomarkers (NFL, MMP-9, IL-18, MIP-1beta and IL-1Ra) | To assess the evolution of plasma biomarkers | Change from baseline up to 2 years |
| D009422 | Nervous System Diseases |
| D020279 | Hereditary Central Nervous System Demyelinating Diseases |
| D056784 | Leukoencephalopathies |
| D003711 | Demyelinating Diseases |
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D008661 | Metabolism, Inborn Errors |
| D018901 | Peroxisomal Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D000309 | Adrenal Insufficiency |
| D000307 | Adrenal Gland Diseases |
| D004700 | Endocrine System Diseases |