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Study to identify blood-derived biomarkers indicative for initiation and progression of X-linked adrenoleukodystrophy

Study to identify blood-derived biomarkers indicative for initiation and progression of X-linked adrenoleukodystrophy

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00022930
Enrollment
400
Registered
2020-08-24
Start date
2020-09-01
Completion date
Unknown
Last updated
2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Healthy volunteers E71.3

Interventions

Group 1: Arm 1 = X-ALD patients with the non-inflammatory X-ALD form Using plasma and serum remnant samples derived from clinical routine examinations, we will perform 2 independent investigations: 1

Sponsors

Center for Brain Research, Medical University of Vienna
Lead Sponsor

Eligibility

Sex/Gender
All
Age
3 Years to 70 Years

Inclusion criteria

Inclusion criteria: 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

Exclusion criteria: Exclusion criteria for plasma/serum remnant samples from X-ALD patients and controls are: Intake of lipid lowering and anti-inflammatory medication

Design outcomes

Primary

MeasureTime frame
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

MeasureTime frame
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.

Countries

Austria, Germany

Contacts

Public ContactIsabelle Weinhofer

Zentrum für Hirnforschung, Medizinische Universität Wien

isabelle.weinhofer@meduniwien.ac.at+43 (0)1 40160-34091

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026