Study to identify blood-derived biomarkers indicative for initiation and progression of X-linked adrenoleukodystrophy
- Conditions
- Healthy volunteersE71.3Disorders of fatty-acid metabolism
- Registration Number
- DRKS00022930
- Lead Sponsor
- Center for Brain Research, Medical University of Vienna
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- All
- Target Recruitment
- 400
Inclusion criteria for plasma/serum remnant samples from X-ALD patients are:
1) diagnosis of X-ALD by measurement of very long-chain fatty acids in the blood
2) patient details (sex and age) are known at time of blood donation
3) available data on the clinical course of the disease
4) knowledge on medication and supplementation of the patient
Inclusion criteria for plasma/serum remnant samples from healthy controls are:
1) patient details (sex and age) are known at time of blood donation
2) no diagnosis of X-ALD or other disorders associated with neurodegeneration or neuroinflammation
Exclusion criteria for plasma/serum remnant samples from X-ALD patients and controls are:
Intake of lipid lowering and anti-inflammatory medication
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The primary endpoints of this study are the blood level of neurofilament light chain protein and the epigenetic status of cell free DNA isolated from the plasma. The primary endpoints will be determined by single molecule array (SiMoA) technique and next generation sequencing.
- Secondary Outcome Measures
Name Time Method The secondary endpoint of this study is whether the identified differences in the amount of neurofilament light chain protein and epigenetic status of cell free DNA correlate with the progression of AMN and/or CALD.