Clinical trial NCT06634160: Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia
Official title: Assessment of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD) Prevalence in Patients With Heterozygous Familial Hypercholesterolemia (HeFH): the STEATO-FH Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Heterozygous Familial Hypercholesterolemia
Keywords: MASLD
Heterozygous Familial Hypercholesterolemia
steatosis
fibrosis
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
Collaborators: name: University Hospital, Angers
name: Rennes University Hospital
First posted: 2024-10-09
Enrollment: 200
Sex: ALL
Minimum age (years): 35
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

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.

Eligibility criteria: 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)

Primary outcomes:
measure: Presence of steatosis in HeFH patients
timeFrame: 1 day
Secondary outcomes:
measure: Establish the prevalence of hepatic fibrosis
timeFrame: 1 day
measure: Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis
timeFrame: 1 day
measure: Evaluate the association between anthropometric measures (weight, height, waist circumference, and calculated BMI) and the presence of hepatic steatosis or fibrosis.
timeFrame: 1 day
measure: 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
timeFrame: 1 day
measure: Evaluate the proportion of patients with hepatic steatosis or fibrosis according to the nature of the genetic mutation
timeFrame: 1 day
measure: Evaluate the link between the presence of hepatic steatosis or fibrosis and the risk of cardiovascular disease
timeFrame: 12 months
measure: Determine factors associated with the presence of steatosis or hepatic fibrosis
timeFrame: 1 day
Other outcomes:
measure: Identify blood biomarkers associated with hepatic steatosis and fibrosis
timeFrame: 1 day
Locations:
city: Angers
country: France
facility: CHU angers
city: Nantes
country: France
facility: CHU Nantes
city: Rennes
country: France
facility: Rennes University Hospital
Study officials:
References: