The primary objective of the study is to develop new sensitive and quantitative outcome measures for clinical trials in ALD. The secondary objective is to identify biomarkers to stratify patients based on disease progression rate.
ID
Source
Brief title
Condition
- Neurological disorders congenital
- Congenital and peripartum neurological conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Progression of disease (ALD) on all parameters
Secondary outcome
Secondary Objective(s):
1) to validate the new outcome measures (i.e. is the biomarker predictive) in
this cohort.
2) to establish if pre-symptomatic patients, and severely affected patients
also show progression on the outcome measures under investigation and if that
means these patients will become eligible for clinical studies.
3) to measure body sway in a cohort of healthy control subjects in order to get
normative data.
Background summary
Patients with X-linked adrenoleukodystrophy (X-ALD) develop adrenocortical
insufficiency (80% during childhood) and virtually all patients (male and
female) develop a progressive myelopathy. Currently, there is no
disease-modifying treatment and options to quantify myelopathy are limited.
Quantifying disease severity is of the utmost importance in studies to
determine efficacy of new treatments. Recent studies showed that quantitative
MRI (DTI) can distinguish between symptomatic and asymptomatic ALD patients.
These techniques as well as force plate analysis are potential useful outcome
measures of the severity of the myelopathy in ALD and will allow for efficient
clinical trial design.
Study objective
The primary objective of the study is to develop new sensitive and quantitative
outcome measures for clinical trials in ALD. The secondary objective is to
identify biomarkers to stratify patients based on disease progression rate.
Study design
This study is a 10-year extension study from a systematic follow-up in male ALD
patients, with visits to the hospital every 6 or 12 months (depending on age).
For the body sway analysis, matched controls will also be evaluated.
Study burden and risks
Currently, patients with X-linked adrenoleukodystrophy visit the hospital once
or twice a year for regular follow up (containing neurological examination, MRI
scan of the brain and endocrinological test). In this study the frequency of
these visits will not change, the only differences are:
An extended MRI protocol (70 instead of 45 minutes)
Additional blood sampling
Quality of life and disability scales (SF-36, ALDS)
2 or 6-minute walk test
9-hole peg test
Accelerometry with wearable sensors: measurement of physical activity and gait
pattern
Lumbar puncture (optional and only for individuals aged 16 and older and only
after additional consent)
Meibergdreef 15
Amsterdam 1105AZ
NL
Meibergdreef 15
Amsterdam 1105AZ
NL
Listed location countries
Age
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)
Design
Recruitment
Kamer G4-214
Postbus 22660
1100 DD Amsterdam
020 566 7389
mecamc@amsterdamumc.nl
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL68251.018.18 |