Ondezoek naar de aanmaak en afbraak van cholesterolvetdeeltjes in patiënten met familiaire hypercholesterolemie
Recruiting
- Conditions
- Familial hypercholesterolemia (FH), Cholestorol, Low-density lipoprotein (LDL), very low-density lipoproteien (VLDL), apolipoprotein (ApoB), kinetics.
- Registration Number
- NL-OMON26254
- Lead Sponsor
- Academisch Medisch Centrum (AMC), Amsterdam
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 60
Inclusion Criteria
Diagnosis of familial hypercholesterolemia of unknown origin (FH4) based on Dutch Lipid Clinic Network criteria (Nordestgaard et al. 2013) and negative DNA-testing (mutations in LDLR, ApoB, PCSK9).
- Untreated LDL-cholesterol levels of > 95th percentile for affected members, 20-60th percentile for non-affected controls.
Exclusion Criteria
- Heavy alcohol use
- Dysthyroidism
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Differences between FH4 patients and controls in:<br /><br>- Fractional catabolic rate (FCR) pools/day<br /><br>- Production rate (PR)<br /><br>- Cholesterol fractional synthetic rate (FSR)<br>
- Secondary Outcome Measures
Name Time Method Differences between FH4 patients and controls in:<br /><br>- Tracer/tracee ratio<br /><br>- Pool size (PS) mg/kg<br /><br>- Total 24h cholesterol excretion