Schilder's disease X-ALD X-linked adrenoleukodystrophy
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients: - male patients with X-ALD (confirmed by ABCD1 mutation analysis) - age for which follow-up is normally recommended (2 years and older) - willing to undergo regular follow-up visits (twice yearly if 12 years) with blood sampling and MRI scan of the brain. - Informed consent obtained from participant or legal guardian in case of a minor;For the additional MRI sequences at 7-Tesla participants must meet these additional criteria: - Age 18 years or older - Supplementary informed consent procedure;Subjects eligible to participate as healthy controls must meet all of the following criteria: - Willing to visit the hospital - 12 years or older - For administration of gadolinium: age 18 years or older - Informed consent obtained from participant - Informed consent obtained from participant or legal guardian in case of a minor
Exclusion criteria
Exclusion criteria: Patients: - unable to visit the hospital for follow-up (for instance, due to advanced disease) - co-existing neurological disease making interpretation of acquired data difficult (for instance, multiple sclerosis);A potential healthy control who meets any of the following criteria will be excluded from participation in this study: - neurological disease (because this would impede accurate interpretation of the MRI imaging data)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study parameter is conversion to cerebral ALD. | — |
Secondary
| Measure | Time frame |
|---|---|
| Natural history of X-ALD. | — |
Countries
Netherlands
Outcome results
None listed