Five year follow-up of the phenotype of X-linked adrenoleukodystrophy carriers: a cohort study.

Completed

• Conditions: Schilder's disease; X-ALD; X-linked adrenoleukodystrophy; 10029299; 10010335

• Registration Number: NL-OMON43945
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 60

Inclusion Criteria

- Female carriers of X-ALD (confirmed by ABCD1 mutation analysis)
- Age above 18 years
- Willing to visit the hospital
- Informed consent obtained from participant

Exclusion Criteria

- Unable to visit the hospital
- Neurological co-morbidity (because this would impede accurate interpretation of the neurological assessment)

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To conduct a five year follow-up of the X-ALD carriers and evaluate progression<br /><br>of symptoms by assessing participants* current symptomatic and biochemical<br /><br>(VLCFA in plasma) status.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>To validate a new biomarker (26:0-lyso-PC(1-<br /><br>hexacosanoyl-2-lyso-sn-3-glycero-phosphorylcholine)) amongst X-ALD carriers. To<br /><br>identify new (diagnostic) biomarkers for X-ALD using lipidomics analysis. </p><br>