Assessment of the Prevalence of Steatotic Liver Disease Associated with Metabolic Dysfunction in Patients with Heterozygous Familial Hypercholesterolemia

Recruiting

• Conditions: Heterozygous Familial Hypercholesterolemia
• Interventions: Diagnostic Test: Fibroscan; Other: Sample collection

• Registration Number: NCT06634160
• Lead Sponsor: Nantes University Hospital

Brief Summary

The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population.

Detailed Description

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.

Study Timeline

• Study First Submitted: 2024-10-04
• Study First Submitted QC: 2024-10-08
• Study First Posted: 2024-10-09
• Study Start: 2025-01-30
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-05
• Last Update Posted: 2025-02-06
• Primary Completion: 2027-01-30
• Study Completion: 2028-01-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• Patient aged 35 or over
• Consultation at Nantes, Rennes or Angers University Hospital during the inclusion period
• With a diagnosis of familial hypercholesterolemia defined by the presence of a genetic variant, ACMG classes 4 & 5 on LDLR, APOB or PCSK9
• Patient not objecting to inclusion in study (no written objection)

Exclusion Criteria

• Protected patients: minors, adults under guardianship, curatorship and/or safeguard of justice
• Pregnant or breast-feeding
• Active viral hepatitis
• Hemochromatosis
• Other genetic or autoimmune hepatitis
• Current treatment with a drug likely to cause hepatic steatosis, including amiodarone, carbamazepine, tamoxifen, valproate, clozapine, anti-retrovirals
• Current oral corticosteroid therapy unless dose has been stable for ≥ 3 months
• Current pathological alcohol consumption (≥ 60 g/day in men and ≥ 50 g/day in women)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Study population	Fibroscan	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.
Study population	Sample collection	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.

Primary Outcome Measures

Name	Time	Method
Presence of steatosis in HeFH patients	1 day	Presence of steatosis in HeFH patients assessed by Fibroscan® measurement of CAP (Controlled Attenuation Parameter) ≥ 275 dB/m (Berzigotti et al., 2021)

Secondary Outcome Measures

Name	Time	Method
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
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

Trial Locations

Locations (3)

CHU angers; 🇫🇷 Angers, France

CHU Nantes; 🇫🇷 Nantes, France

Rennes University Hospital; 🇫🇷 Rennes, France