An interventional study of Whole Genome Sequencing in Homozygous Familial Hypercholesterolemia, sponsored by Nantes University Hospital. Completed at 9 sites in France. Open to participants aged 40 Years and older. Per ClinicalTrials.gov, last updated 2021-05-24.
Sponsored by Nantes University Hospital · Not applicable, Interventional, and Other
The main objective of SAFIR is to identify the atherosclerotic genetic factors in these patients, which will identify new therapeutic targets for the treatment of CV and Familial Hypercholesterolemia diseases. In addition, SAFIR will allow the identification of new CV protection biomarkers, which will be useful tools for the development of a personalized medicine for the management of dyslipidemias.
The objective of the SAFIR study is to perform non-invasive coronary vascular phenotyping of familial hypercholesterolemia (FH) families by performing a coronary calcium score and then to detect protective genetic factors in patients who do not have a significant atheroma despite a perturbed biological phenotype.
The investigators will also conduct biochemical, lipidemic and metabolomic analyzes to identify a signature of biomarkers protective of cardiovascular risk in FH patients.
The investigators will use the French FH register, which already includes 3889 patients, to identify these "protected" FH families within the main reference centers for the management of FH for inclusion and follow-up of patients.
245 studies on the registry are indexed under Hyperlipoproteinemia Type II; 52 are open to participants now.
This study's enrollment of 562 is above the median of 86 across 170 interventional studies indexed under Hyperlipoproteinemia Type II.
Browse Hyperlipoproteinemia Type II studies →Nantes University Hospital is the lead sponsor of 825 studies on the registry; 195 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The inclusion criteria to be met in the population with known coronary atheroma:
Inclusion criteria to be met in the population without cardiovascular risk:
44 year old men and 54 year old women: under 4 years old
Inclusion criteria to be met in the related population with familial hypercholesterolemia :
Inclusion criteria to be met in the related population without familial hypercholesterolemia :
Exclusion Criteria:
The exclusion criterion for all populations except the related population without familial hypercholesterolemia:
FH Patient without atherosclerosis
Genetic: Whole Genome Sequencing
FH patient with atheroclerosis
Genetic: Whole Genome Sequencing
No FH patient
Genetic: Whole Genome Sequencing
Whole Genome Sequencing Biomarkers analyses
Also known as: Biological analyzes
Identification of genes associated with the resistance to development of coronary atherosclerosis in subjects with heterozygous familial hypercholesterolemia
Identification of functional genetic variants by a Whole Genome Sequencing (WGS) approach in case-control analysis (FH without and with advanced coronary atherosclerosis) and/or family analysis (protected and affected relatives)
Time frame: 3 years
Identification of new biochemical, lipidemic, metabolomic and metagenomic biomarkers associated with cardiovascular protection in FH patients.
Lipidic panel, phosphocalcic panel, Ceramides, Alipoproteins, Lp(a), lipidomic, LDL size, Phospholipids, TMAO, Carnitin, Cholin, microbiota, metabolomic, LDL Ox, Sterols, Isoprostan, oxidation, inflammation, cytokins, oxidative stress.
Time frame: 3 years
Association of arterial stiffness (reflected by the pulse wave velocity) with the development of coronary atherosclerosis in FH patients
Measurement of arterial stiffness measured by popmeter® (pulse wave velocity)
Time frame: 3 years
Association of atherosclerosis of supra-aortic trunks (AST) with the development of coronary atherosclerosis in FH patients
Measurement of ASD through arterial Doppler ultrasonography (Intra-media thickness (IMT), degree of stenosis (ESCT), plaque)
Time frame: 3 years
Association of atherosclerosis of the lower limbs with the development of coronary atherosclerosis (PAD) in FH patients
Measurement of lower extremity involvement by arterial doppler ultrasonography
Time frame: 3 years
Association between aortic valvular score and development of coronary atherosclerosis in FH patients
Measurement of coronary calcium score and aortic valvular score (optional) by a thoracic CT scan
Time frame: 3 years
Association between coronary calcium score and aortic valvular score in HF patients
Measurement of coronary calcium score and aortic valvular score (optional) by a thoracic CT scan
Time frame: 3 years
Plan to share: Undecided
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This study is completed, as verified in May 2021. You cannot join it, but the record below documents what was studied.
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Nantes University Hospital