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NCT Number: NCT06634160

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

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

Recruiting

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Key information

Age range

35 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU angers, Angers, France

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

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)).

Sample collection

Other

20 mL whole blood sample

Primary outcomes

  1. Presence of steatosis in HeFH patients

    Time frame: 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 outcomes

  1. Establish the prevalence of hepatic fibrosis

    Time frame: 1 day

  2. Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis

    Time frame: 1 day

  3. Evaluate the association between anthropometric measures (weight, height, waist circumference, and calculated BMI) and the presence of hepatic steatosis or fibrosis.

    Time frame: 1 day

  4. 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

    Time frame: 1 day

  5. Evaluate the proportion of patients with hepatic steatosis or fibrosis according to the nature of the genetic mutation

    Time frame: 1 day

  6. Evaluate the link between the presence of hepatic steatosis or fibrosis and the risk of cardiovascular disease

    Time frame: 12 months

  7. Determine factors associated with the presence of steatosis or hepatic fibrosis

    Time frame: 1 day

Other outcomes

  1. Identify blood biomarkers associated with hepatic steatosis and fibrosis

    Time frame: 1 day

Study contacts

Contact information is provided by the study sponsor or research team.

Sarra SMATI

CONTACT

[email protected]

02 53 48 27 19 ext. +33

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Collaborators

  • Rennes University Hospital
  • University Hospital, Angers

Registry information

Official study title

Assessment of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD) Prevalence in Patients With Heterozygous Familial Hypercholesterolemia (HeFH): the STEATO-FH Study

Acronym: STEATO-FH

Important dates

Study start
2025
Primary completion
2027
Study completion
2028
First posted
Oct 9, 2024
Registry last updated
Feb 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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