Determinants of coronary atherosclerosis in familial hypercholesterolemia
Study of the Determinants of Coronary Atherosclerosis in Familial Hypercholesterolemia
We will use coronary CT scans to see how common hidden coronary artery plaque is in adults with familial hypercholesterolemia who do not yet have clinical heart disease.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 600 (estimated) |
| Ages | 40 Years and up |
| Sex | All |
| Sponsor | Nantes University Hospital Academic / other |
| Locations | 9 sites (Dijon and 8 other locations) |
| Trial ID | NCT06960902 on ClinicalTrials.gov |
What this trial studies
The study uses coronary CT angiography, including coronary artery calcium (CAC) scoring, to detect subclinical coronary atherosclerosis in people with familial hypercholesterolemia who have not had clinical cardiovascular events. Participants attend an on-site inclusion visit and must undergo coronary CT angiography within six months, with phone follow-ups at one and two years and a return on-site visit at 30 months. CAC scores will be referenced to age-, sex-, and ethnicity-specific percentiles from the MESA study to define low, intermediate, and high risk groups. The approach measures how common hidden plaque is across those risk strata to inform prevention strategies.
Who should consider this trial
Good fit: Adults with a definite diagnosis of familial hypercholesterolemia (DLCN score >8 or a causal LDLR/APOB/PCSK9/APOE mutation), male aged ≥40 or female aged ≥50, in primary prevention, able to undergo coronary CT, and able to complete French-language questionnaires are ideal candidates.
Not a fit: People who already have clinical atherosclerotic cardiovascular disease, are younger than the age thresholds, cannot undergo CT imaging, or have unstable lipid, blood pressure, or diabetes treatment are unlikely to receive benefit from this protocol.
Why it matters
Potential benefit: If successful, this could help doctors identify which people with familial hypercholesterolemia have hidden coronary plaque so preventive treatment can be targeted more precisely.
How similar studies have performed: Coronary calcium scoring and CT angiography have been widely used to detect subclinical plaque and predict risk in high-risk populations including familial hypercholesterolemia, so the imaging approach is established even if applying MESA percentile stratification in FH is less common.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Person willing to sign the study consent form * Person affiliated with a current social security scheme * Person with a definite diagnosis of Familial Hypercholesterolemia, defined by a Dutch Lipid Clinic Network (DLCN) clinical-biological score \> 8 and/or an identified causal mutation in the LDL receptor (LDLR) gene, apolipoprotein B100 gene, PCSK9 gene, or apolipoprotein E gene * Male aged 40 years or older, or female aged 50 years or older * Ability to understand French for questionnaire completion * Person not taking any lipid-lowering medication or on a stable dose of lipid-lowering therapy for at least one month prior to inclusion (three months for PCSK9 inhibitors) at Visit 1 * Person not taking any antihypertensive medication or on a stable dose of antihypertensive therapy for at least one month at Visit 1 * Person not taking any antidiabetic medication or on a stable dose of antidiabetic therapy for at least 3 months at Visit 1 Exclusion Criteria: * Subject with a technical contraindication for coronary CT scan: patient diameter \> 70 cm and/or weight \> 250 kg * Patient with a history of atherosclerotic cardiovascular event (myocardial infarction, ischemic heart disease, coronary revascularization, ischemic stroke, carotid endarterectomy, lower limb arterial revascularization) * Patient allergic to iodinated contrast agents * Severe renal insufficiency: estimated glomerular filtration rate (eGFR) according to the CKD-EPI formula ≤ 30 ml/min * Subject with active cancer or in remission for less than 3 years * Subject who has received oral or intravenous corticosteroid therapy within the last 6 months * Subject with untreated or poorly controlled hypothyroidism * Subject receiving immunosuppressive or anticancer therapy * Subject refusing to participate * Subject under guardianship, curatorship, or judicial protection, or without social insurance coverage * Pregnant woman
Where this trial is running
Dijon and 8 other locations
- CHU Dijon Bourgogne — Dijon, France (Recruiting)
- CHRU Lille — Lille, France (Not_yet_recruiting)
- Hospices Civils de Lyon — Lyon, France (Recruiting)
- Hôpital de la Conception, AP-HM — Marseille, France (Not_yet_recruiting)
- CHU Nantes — Nantes, France (Recruiting)
- Hôpital de la Pitié-Salpêtrière, AP-HP — Paris, France (Recruiting)
- Hôpital Saint-Antoine, AP-HP — Paris, France (Recruiting)
- CHU Rennes — Rennes, France (Recruiting)
- CHU Strasbourg — Strasbourg, France (Recruiting)
Study contacts
- Study coordinator: Bertrand CARIOU, Pr
- Email: bertrand.cariou@chu-nantes.fr
- Phone: +33 2 53 48 27 10
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.