We aim to conduct a five year follow-up amongst the X-ALD carriers and assess their current symptomatic and biochemical status. This data will provide new insights in the progression of the disease in carriers. Moreover we would like to validate a…
ID
Source
Brief title
Condition
- Neurological disorders congenital
- Congenital and peripartum neurological conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
To conduct a five year follow-up of the X-ALD carriers and evaluate progression
of symptoms by assessing participants* current symptomatic and biochemical
(VLCFA in plasma) status.
Secondary outcome
To validate a new biomarker (26:0-lyso-PC(1-
hexacosanoyl-2-lyso-sn-3-glycero-phosphorylcholine)) amongst X-ALD carriers. To
identify new (diagnostic) biomarkers for X-ALD using lipidomics analysis.
Background summary
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder,
caused by mutations in the ABCD1 gene, biochemically characterized by
accumulation of very-long-chain fatty acids and decreased beta-oxidation.
Clinically the phenotype in men is highly variable, ranging from exclusively
adrenocortical insufficiency, a gradually progressive myelopathy and peripheral
neuropathy to a devastating progressive and fatal cerebral demyelinating
disease.
Considering X-ALD is an X-linked disease, it was speculated that female
carriers would be asymptomatic. However, amongst others, the prospective
cross-sectional cohort study conducted in our outpatient clinic in the
Academic Medical Centre (AMC) in 46 X-ALD carriers showed that the majority
(63%) also develop symptoms of myelopathy and/or peripheral neuropathy, of
which the frequency increases with age. In addition the very long-chain fatty
acids (VLCFA) in plasma were elevated in 69%, with decreased beta-oxidation in
fibroblasts in 60%. Adrenocortical insufficiency and the devastating cerebral
demyelinating disease are rare in carriers.
Study objective
We aim to conduct a five year follow-up amongst the X-ALD carriers and assess
their current symptomatic and biochemical status. This data will provide new
insights in the progression of the disease in carriers. Moreover we would like
to validate a new biomarker (26:0-lyso-PC(1-
hexacosanoyl-2-lyso-sn-3-glycero-phosphorylcholine) which is the substrate for
the recently validated newborn screening for X-ALD and to identify new
(diagnostic) biomarkers for X-ALD with lipidomics analysis.
Study design
This study is the five year follow-up of a prospective cohort study, requiring
one visit to the hospital.
Study burden and risks
Participants will have to visit the hospital once and undergo a venapunction.
Considering there is very limited data available on X-ALD carriers we believe
the burden of this minor intervention outweighs the possible benefits of more
knowledge on the phenotype of X-ALD carriers.
Meibergdreef 9
Amsterdam 1105AZ
NL
Meibergdreef 9
Amsterdam 1105AZ
NL
Listed location countries
Age
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)
Design
Recruitment
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 | NL52846.018.15 |