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Onderzoek naar de oorzaak van familiaire hypercholesterolemie bij patiŽnten zonder een bekende genetische oorzaak


- candidate number28647
- NTR NumberNTR7059
- ISRCTNISRCTN no longer applicable
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR27-feb-2018
- Secondary IDsNL 62407.018.17 METC AMC
- Public TitleOnderzoek naar de oorzaak van familiaire hypercholesterolemie bij patiŽnten zonder een bekende genetische oorzaak
- Scientific TitleBeginning to unravel the cause of familial hypercholesterolemia of unknown origin (FH4)
- ACRONYMBEAVER
- hypothesisFamilial 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 the genome, epigenome, transcriptome, proteome, and metabolome are combined to find novel genes and metabolic pathways in lipid metabolism.
- Healt Condition(s) or Problem(s) studiedFamilial hypercholesterolemia (FH), Cholestorol, Genetics, Low-density lipoprotein (LDL)
- Inclusion criteria- Diagnosis of familial hypercholesterolemia based on Dutch Lipid Clinic Network criteria (Nordestgaard et al. 2013) in combination with a negative DNA-testing (mutations in LDLR, ApoB, PCSK9).
- Untreated LDL-cholesterol levels of > 95th percentile for age and gender
- >18 years of age
- Exclusion criteria Abusive alcohol use
 Dysthyroidism
 Pregnancy, breastfeeding
 Diabetes mellitus
 Use of medication that might elevate lipid levels
- mec approval receivedyes
- multicenter trialno
- randomisedno
- group[default]
- TypeSingle arm
- Studytypeobservational
- planned startdate 17-jan-2018
- planned closingdate1-aug-2022
- Target number of participants100
- Interventionsnone
- Primary outcome- SNPís and DNA methylation percentage will be analysed using a multivariable linear regression analyses.
- RNA sequencing and gene expression will be expressed relative to controls, and in a subgroup with and without LLT.
- Protein and lipid content measured through mass spectrometry will be expressed as relative abundance in subjects (on and off LLT) and controls. Heatmaps will be used to display relative differences between groups.
- Protein assessed with ELISA assays will be expressed as means and compared with a studentís t-test.
- Fast protein liquid chromatography (FPLC) on lipoprotein cholesterol levels will be expressed as means and compared with a studentís t-test.
- Secondary outcomenone
- TimepointsVisit 1: under lipid lowering therapy
Visit 2: after discontinuation of lipid lowering therapy 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. In this study we will combine data derived from the genome, epigenome, transcriptome, proteome, and metabolome to find novel genes and metabolic pathways in lipid metabolism.
- Main changes (audit trail)
- RECORD27-feb-2018 - 9-apr-2018


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