To determine, by measuring cIMT's, whether the abnormal lipid profile of GD I carriers and patients is associated with atherosclerosis and an increased risk of CAD.
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
cIMT
Secondary outcome
total cholesterol, LDL, HDL.
Background summary
Gaucher disease type I (GD I) is the most common lysosomal storage disorder,
caused by deficiency of the enzym glucocerebrosidase. Concentrations of total
plasma cholesterol, LDL and HDL are reduced in a large proportion of patients
with GD I. Also in GD carriers low HDL-c levels are found. In numerous
epidemiologic studies it has been shown that low plasma HDL levels are
associated with increased risk for coronary artery disease (CAD). A
non-invasive validated biomarker for the status of atherosclerosis and present
and future cardiovascular disease risk is the ultrasonographically measured
carotid intima-media thickness (cIMT).
In order to study whether the abnormal lipid profile in GD I patients and
carriers is associated with atherosclerosis and, potentially, an increased risk
of cardiovascular disease, we will measure arterial cIMT in GD I patients,
carriers and controls, who are matched for age, sex and smoking status.
Study objective
To determine, by measuring cIMT's, whether the abnormal lipid profile of GD I
carriers and patients is associated with atherosclerosis and an increased risk
of CAD.
Study design
A cross sectional, observational study will be performed in Gaucher disease
type I patients, carriers and unaffected controls. Each participant will be
subjected to a single IMT measurement. Blood samples will be obtained for lipid
profiling, DNA and biochemical analysis.
Study burden and risks
The burden for participants consists of a single cIMT, a venapuncture (max 39
mL) after an overnight fast, a questionaire and a physical examination.
The only risk involved is the risk associated with a venapuncture (hematoma,
bleeding, inflammation).
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Listed location countries
Age
Inclusion criteria
-Patients, older than 18 years, with proven GD I, as evidenced by decreased plasma glucocerebrosidase activity or genotyping.
-Carriers, older than 18 years, with proven heterozygosity for the GD I genotype.
-Controls, older than 18 years, with proven absence of the four most prevalent Gaucher-mutations, and, if related to a Gaucher patient, absence of the Gaucher mutations present in their family.
-Patients, carriers and controls have to provide written informed consent to participate in the study.
Exclusion criteria
none
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 | NL13350.018.06 |