Schilder's disease X-ALD X-linked adrenoleukodystrophy
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
No minimum to 64 Years
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: - Diagnosis of ALD (confirmed by ABCD1 mutation analysis) - For male patients: Willing to undergo regular follow-up visits (twice yearly if 12 years) with blood sampling and MRI scan of the brain - For female patients: Willing to visit the hospital once every two to three years - Provision of written informed consent to participate in the study obtained from the participant or legal guardian in case of a minor Subjects eligible to participate as healthy controls must meet all of the following criteria: - Willing to visit the hospital - 16 years or older - Provision of written informed consent to participate in the study obtained from the participant
Exclusion criteria
Exclusion criteria: A potential subject (patient or healthy control) who meets any of the following criteria will be excluded from participation in this study: - unable to visit the hospital for follow up (for example in case of advanced disease) - co existing neurological disease making interpretation of acquired data difficult (for instance multiple sclerosis)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Progression of disease (ALD) on all parameters | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary Objective(s): 1) to validate the new outcome measures (i.e. is the biomarker predictive) in this cohort. 2) to establish if pre-symptomatic patients, and severely affected patients also show progression on the outcome measures under investigation and if that means these patients will become eligible for clinical studies. 3) to measure body sway in a cohort of healthy control subjects in order to get normative data. | — |
Countries
Netherlands
Outcome results
None listed