1. What proportion of X-ALD carriers have symptoms en what are those symptoms (as evaluated by history, neurologic examination and electrophysiology)?2. At what age did symptoms fist manifest themselves and how is the progression of those symtpoms?3…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Spinal cord and nerve root disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1. Symptoms found by (neurologic) history and physical examination
2. Score on SF-36 and ALDS
3. Electrophysiological studies (EMG, SSEP, BAEP)
Secondary outcome
1. Biochemical parameters (plasma C26:0, ALDP expression in fibroblasts)
2. X-inactivation
Background summary
X-linked adrenoleukodystrophy is a metabolic disorder characterised by impaired
peroxisomal beta-oxidation of very long chain fatty acids (>C22:0). These fatty
acids accumulate in plasma and tissues of patients. Clinical presentation and
progression of the disease has been well decribed for male patients over the
last decades. For a long time it was assumed that carriers would develop no or
only mild symptoms, as is the case in many X-linked diseases. However, there
are carriers with severe and disabling symptoms. How many carriers develop
symptoms and how severe these symptoms are has not yet been systematically
studied.
Study objective
1. What proportion of X-ALD carriers have symptoms en what are those symptoms
(as evaluated by history, neurologic examination and electrophysiology)?
2. At what age did symptoms fist manifest themselves and how is the progression
of those symtpoms?
3. Are there differences in biochemical (C26:0 in plasma, ALDP expression) or
genetic (X-inactivation) between symptomatic and asymptomatic X-ALD carriers?
Study design
Observational cohort study
Study burden and risks
Participation entails one visit to the hospital for part of a day
(approximately 4 hours) for history/physical examination, blood sample/skin
biopsy and electrophysiological studies. Questionaires must be completed prior
to this visit (SF-36, ALDS), which will usually take less than 30 minutes.
Meibergdreef 9
1100DD Amsterdam
Nederland
Meibergdreef 9
1100DD Amsterdam
Nederland
Listed location countries
Age
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)
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 | NL17119.018.07 |