Phenotype prediction in patients with X-linked adrenoleukodystrophy: a prospective study.
- Conditions
- Schilder's diseaseX-ALDX-linked adrenoleukodystrophy1002929910010335
- Registration Number
- NL-OMON45041
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 125
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 and 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
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)
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The main study parameter is conversion to cerebral ALD. </p><br>
- Secondary Outcome Measures
Name Time Method <p>Natural history of X-ALD.</p><br>