10-year extension study: prospective systematic follow-up for X-linked adrenoleukodystrophy.

Recruiting

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

• Registration Number: NL-OMON49948
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 18 June 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 200

Inclusion Criteria

In order to be eligible to participate in this study, a subject must meet all
of the following criteria:
- Diagnosis of ALD (confirmed by ABCD1 mutation analysis)
- For male patients: 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
- For female patients: Willing to visit the hospital once every two to three
years
- Provision of written informed consent to participate in the study obtained
from the participant or legal guardian in case of a minor

Subjects eligible to participate as healthy controls must meet all of the
following criteria:
- Willing to visit the hospital
- 16 years or older
- Provision of written informed consent to participate in the study obtained
from the participant

Exclusion Criteria

A potential subject (patient or healthy control) who meets any of the following
criteria will be excluded from participation in this study:
- unable to visit the hospital for follow up (for example in case of advanced
disease)
- co existing neurological disease making interpretation of acquired data
difficult (for instance multiple sclerosis)

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>Progression of disease (ALD) on all parameters</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary Objective(s):<br /><br>1) to validate the new outcome measures (i.e. is the biomarker predictive) in<br /><br>this cohort.<br /><br>2) to establish if pre-symptomatic patients, and severely affected patients<br /><br>also show progression on the outcome measures under investigation and if that<br /><br>means these patients will become eligible for clinical studies.<br /><br>3) to measure body sway in a cohort of healthy control subjects in order to get<br /><br>normative data.</p><br>