Study of cardiovAscular Contrasted Phenotypes in Patients With FamIliaI hypercholesteRolemia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

562 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-12-06

Study Completion Date

2021-05-06

Brief Summary

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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.

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Detailed Description

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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

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Homozygous Familial Hypercholesterolemia

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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Atherosclerosis- resistance

FH Patient without atherosclerosis

Group Type OTHER

Whole Genome Sequencing

Intervention Type GENETIC

Whole Genome Sequencing Biomarkers analyses

Control

FH patient with atheroclerosis

Group Type OTHER

Whole Genome Sequencing

Intervention Type GENETIC

Whole Genome Sequencing Biomarkers analyses

the related population without familial hypercholesterolemia

No FH patient

Group Type OTHER

Whole Genome Sequencing

Intervention Type GENETIC

Whole Genome Sequencing Biomarkers analyses

Interventions

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Whole Genome Sequencing

Whole Genome Sequencing Biomarkers analyses

Intervention Type GENETIC

Other Intervention Names

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Biological analyzes

Eligibility Criteria

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Inclusion Criteria

* Patient agreeing to sign the consent of the study and the consent of biocollection
* Patient suffering from a familial hypercholesterolemia with a clinically-biologic score DLCN (Dutch Lipid Clinic Network, Annex 2)\> 8 and / or a causative mutation identified in the LDL receptor genes, apolipoprotein B100 or Of PCSK9.
* Men ≥ 40 years of age; Female ≥ 50 years
* Patient affiliated to an existing social insurance

* Subject in secondary prevention of an atheromatous disease: coronary event or ischemic heart disease, irrespective of the result of the coronary calcium score; Ischemic stroke with proven carotid atheromatosis; revascularization (angioplasty, bypass surgery) or amputation in PAD
* Primary prevention topic CV with calcium score ≥ 400 Agatston units

\- No cardiovascular event (including MI, coronary revascularization, angina, stroke \&, Transiant ischemic attack of atheromatous origin, PAD) with: For women between 50 and 65 years, a nil calcium score \* For women between 65 and 75 years of age, a calcium score\*\* ≤ 10 Agatston units For women over 75 years of age, a calcium score\*\* ≤ 20 Agatston units For men between 40 and 55 years of age, a nil calcium score\* for men For men between 55 and 70 years of age, a calcium score\*\* ≤ 10 Agatston units For men over 70 years of age, a calcium score\*\* ≤ 20 Agatston units

* 40 year old men and 50 year old women: less than 6 months old
* 41 year old men and 51 year old women: under 1 year old
* 42 year old men and 52 year old women: under 2 years old
* 43 year old men and 53 year old women: under 3 years old
* 44 year old men and 54 year old women: under 4 years old

* Less than 5 years

* Patient agreeing to sign the consent of the study and the consent of biocollection
* Patient suffering from a familial hypercholesterolemia with a clinically-biologic score DLCN (Dutch Lipid Clinic Network, Annex 2)\> 8 and / or a causative mutation identified in the LDL receptor genes, apolipoprotein B100 or Of PCSK9.
* Men or Female ≥ 30 years
* Patient affiliated to an existing social insurance

* Patient agreeing to sign the consent of the study and the consent of biocollection
* Patient not suffering from a familial hypercholesterolemia related to one of the members of the population suffering from familial hypercholesterolemia without cardiovascular risk
* Men or Female ≥ 18 years
* Patient affiliated to an existing social insurance

Exclusion Criteria

* Subject suffering from active cancer or progressive neoplasia
* Subject treated with recent corticosteroid therapy
* Subjects with unsubstituted or poorly controlled hypothyroidism (TSH\> normal)
* Subject receiving immunosuppressive or anti-cancer treatment
* Subject refusing to participate
* Subjects under tutelage, curatorship or a safeguard of justice or without social insurance

The exclusion criterion for all populations except the related population without familial hypercholesterolemia:

\- Subject with no "definite" familial hypercholesterolemia according to the DLCN score (≤8), after auction. The purpose of the auction will be to rule on the causal nature of an identified mutation.

Minimum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No