RecruitingNCT06634160

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

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


Sponsor

Nantes University Hospital

Enrollment

200 participants

Start Date

Jan 30, 2025

Study Type

OBSERVATIONAL

Conditions

Summary

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


Eligibility

Min Age: 35 Years

Inclusion Criteria4

  • 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 Criteria8

  • 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)

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Interventions

DIAGNOSTIC_TESTFibroscan

Evaluation of the prevalence of steatosis by measuring ultrasound attenuation with Fibroscan® (non-invasive method, at a distance from a meal (3h fasting)).

OTHERSample collection

20 mL whole blood sample


Locations(3)

CHU angers

Angers, France

CHU Nantes

Nantes, France

Rennes University Hospital

Rennes, France

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NCT06634160


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