Phenotyping X-linked adrenoleukodystrophy (X-ALD) in women: a cohort study

• Conditions: Schilder's disease; X-linked adrenoleukodystrophy; 10027424; 10041543

• Registration Number: NL-OMON31235
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 40

Inclusion Criteria

- Age > 18 years
- Carrier for X-ALD (either proven by ABCD1 gene mutation analysis or obligate carrier on basis of family history)

Exclusion Criteria

- Age < 18 years
- Unable to visit hospital or to perform necessary tasks (questionaires, etc)

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>1. Symptoms found by (neurologic) history and physical examination<br /><br>2. Score on SF-36 and ALDS<br /><br>3. Electrophysiological studies (EMG, SSEP, BAEP)</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1. Biochemical parameters (plasma C26:0, ALDP expression in fibroblasts)<br /><br>2. X-inactivation</p><br>