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| ID | Type | Description | Link |
|---|---|---|---|
| 2024-A01647-40 | Other Identifier | IDRCB (ANSM) |
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| Name | Class |
|---|---|
| University Hospital, Angers | OTHER_GOV |
| Rennes University Hospital | OTHER |
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The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population.
Investigators will include patients being followed for heterozygous familial hypercholesterolemia in their centers. The prevalence of hepatic steatosis will be studied non-invasively, using Fibroscan ®. In addition, coronary calcium score (CAC scores) will be evaluated and a biocollection will be performed.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Study population | The study population must correspond to the research inclusion criteria. A fibroscan will be performed on each patient enrolled in the study. Each participant will also be offered a biological sample for an ancillary study. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Fibroscan | Diagnostic Test | Evaluation of the prevalence of steatosis by measuring ultrasound attenuation with Fibroscan® (non-invasive method, at a distance from a meal (3h fasting)). |
| Measure | Description | Time Frame |
|---|---|---|
| Presence of steatosis in HeFH patients | Presence of steatosis in HeFH patients assessed by Fibroscan® measurement of CAP (Controlled Attenuation Parameter) ≥ 275 dB/m (Berzigotti et al., 2021) | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Establish the prevalence of hepatic fibrosis | 1 day | |
| Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis | 1 day | |
| Measure | Description | Time Frame |
|---|---|---|
| Identify blood biomarkers associated with hepatic steatosis and fibrosis | 1 day |
Inclusion Criteria:
Exclusion Criteria:
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Eligible patients are those with definite familial hypercholesterolemia (genetic variant, ACMG classes 4 & 5 on LDLR, APOB or PCSK9), consulting during the inclusion period and age ≥ 35 years.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Sarra SMATI | Contact | 02 53 48 27 19 | +33 | sarra.grangeon@chu-nantes.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU angers | Not yet recruiting | Angers | 49933 | France |
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Two tubes of 10 mL blood each will be collected per patient in the study.
| Sample collection | Other | 20 mL whole blood sample |
|
| Evaluate the association between anthropometric measures (weight, height, waist circumference, and calculated BMI) and the presence of hepatic steatosis or fibrosis. |
| 1 day |
| Evaluate the association between LDL-cholesterol and time of exposure to elevated LDL-cholesterol (Gallo et al. J Clin Lipidol 2017) with the prevalence of steatosis or fibrosis | 1 day |
| Evaluate the proportion of patients with hepatic steatosis or fibrosis according to the nature of the genetic mutation | 1 day |
| Evaluate the link between the presence of hepatic steatosis or fibrosis and the risk of cardiovascular disease | 12 months |
| Determine factors associated with the presence of steatosis or hepatic fibrosis | 1 day |
| CHU Nantes | Recruiting | Nantes | France |
|
| Rennes University Hospital | Not yet recruiting | Rennes | 35033 | France |
|
| ID | Term |
|---|---|
| D005234 | Fatty Liver |
| D005355 | Fibrosis |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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