NCT03234127

Study of cardiovAscular Contrasted Phenotypes in Patients With FamIliaI hypercholesteRolemia

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 562 (actual)
• Sponsor: Nantes University Hospital · Academic / Other
• Sex: All
• Age: 40 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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.

Conditions

• Homozygous Familial Hypercholesterolemia

Interventions

Type	Name	Description
GENETIC	Whole Genome Sequencing	Whole Genome Sequencing Biomarkers analyses

Timeline

• Start date: 2017-12-06
• Primary completion: 2021-05-06
• Completion: 2021-05-06
• First posted: 2017-07-31
• Last updated: 2021-05-24

Locations

9 sites across 1 country: France