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Ondezoek naar de aanmaak en afbraak van cholesterolvetdeeltjes in patiŽnten met familiaire hypercholesterolemie


- candidate number28766
- NTR NumberNTR7127
- ISRCTNISRCTN no longer applicable
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR5-apr-2018
- Secondary IDsNL61012.018.17 METC AMC
- Public TitleOndezoek naar de aanmaak en afbraak van cholesterolvetdeeltjes in patiŽnten met familiaire hypercholesterolemie
- Scientific TitleVLDL1, VLDL2, and LDL apolipoprotein B-100 kinetics in patients with familial hypercholesterolemia of unknown origin
- ACRONYMAPPRECIATION
- hypothesisFamilial hypercholesterolemia of unknown origin (FH4) is caused by an overproduction or a decreased catabolism of ApoB containing lipoproteins
- Healt Condition(s) or Problem(s) studiedCholestorol, Familial hypercholesterolemia (FH), Apolipoprotein (ApoB), Lipoprotein
- 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.
- 18-65 years of age

Controls:
- 18-65 years of age
- Unaffected family member with untreated LDL-cholesterol between 20-60th percentile. OR
- Persons with mutations in LDLR, APOB, or PCSK9 gene or other genes involved in lipid metabolism.
- Exclusion criteria- Heavy alcohol use
- Dysthyroidism
- Pregnancy, breastfeeding
- Renal insufficiency (creatinine >150 žmol/L)
- Diabetes mellitus
- mec approval receivedyes
- multicenter trialno
- randomisedno
- group[default]
- TypeSingle arm
- Studytypeobservational
- planned startdate 1-apr-2017
- planned closingdate1-apr-2020
- Target number of participants60
- Interventionsnone
- Primary outcomeDifferences between FH4 patients and controls in:
- Fractional catabolic rate (FCR) pools/day
- Production rate (PR)
- Cholesterol fractional synthetic rate (FSR)
- Secondary outcomeDifferences between FH4 patients and controls in:
- Tracer/tracee ratio
- Pool size (PS) mg/kg
- Total 24h cholesterol excretion
- TimepointsVisit 1: all patients
Visit 2: (optional) after discontinuation of lipid lowering therapies for 4 weeks
- Trial web site
- statusopen: patient inclusion
- CONTACT FOR PUBLIC QUERIESMD, PhD student Rens Reeskamp
- CONTACT for SCIENTIFIC QUERIESMD, PhD student Rens Reeskamp
- Sponsor/Initiator Academic Medical Center (AMC), Amsterdam
- Funding
(Source(s) of Monetary or Material Support)
ZonMw
- Publications
- Brief summaryFamilial hypercholesterolemia (FH) is characterized by increased low density lipoprotein (LDL) cholesterol and increased cardiovascular risk. There are 3 known genes (LDLR, ApoB, PCSK9) in which mutations can lead to the FH phenotype (FH1 to 3 respectively). However, in approximately 5-10% of patients such a mutation cannot be found, despite family-based linkage studies (the so called FH4 group). Therefore, a more elaborate approach is deemed necessary, where data derived from transcriptome, proteome, and metabolome studies are combined to find novel genes and metabolic pathways in lipid metabolism. We aim to acquire in depth phenotyping in selected FH4 patients by extensive lipoprotein kinetic flux studies yielding insights into the pathophysiological mechanism of FH4. To study ďin vivoĒ apolipoprotein B100 and cholesterol metabolism in patients with FH4, and to compare the results with healthy family controls and dyslipidemic patients with mutations in established lipid genes(i.e. FH1 Ė FH3). This will ultimately help to answer the fundamental question as to whether FH4 is a result of overproduction or a decreased catabolism of ApoB containing lipoproteins.
- Main changes (audit trail)
- RECORD5-apr-2018 - 15-apr-2018


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