Heterozygous Familial HypercholesterolemiaSTEATO-FHNCT06634160
Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia
An observational study of Heterozygous Familial Hypercholesterolemia, run by Nantes University Hospital at 3 sites in France.
Trial summary
The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population. Read more about this study
- Who is it for?
- Ages 35 years and older
- Conditions the study is for
- Heterozygous Familial Hypercholesterolemia
- What is being tested?
- Fibroscan and Sample collection
- How many people
- 200 participants
- Where
- 3 sitesFrance
- Study dates
- 30 Jan 2025to 22 Oct 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 35 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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)
Who cannot join
- 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)
Trial locations and contacts
3 sites in 1 country.
France3 sites
CHU angers
Angers, 49933
CHU Nantes
Nantes
Rennes University Hospital
Rennes, 35033
About this study
Official title: Assessment of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD) Prevalence in Patients With Heterozygous Familial Hypercholesterolemia (HeFH): the STEATO-FH Study
The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population.
Read the 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.
- Being tested
- Fibroscan, Sample collection
- Keywords
- MASLD, Heterozygous Familial Hypercholesterolemia, steatosis, fibrosis
- Medical subject headings
- Fatty Liver, Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
FibroscanDiagnostic 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 collectionOther
20 mL whole blood sample
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Diagnostic Test: Fibroscan; Other: Sample collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 1 day
Secondary outcomes (7)
Establish the prevalence of hepatic fibrosis
Measured: 1 day
Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis
Measured: 1 day
Evaluate the association between anthropometric measures (weight, height, waist circumference, and calculated BMI) and the presence of hepatic steatosis or fibrosis.
Measured: 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
Measured: 1 day
Evaluate the proportion of patients with hepatic steatosis or fibrosis according to the nature of the genetic mutation
Measured: 1 day
Evaluate the link between the presence of hepatic steatosis or fibrosis and the risk of cardiovascular disease
Measured: 12 months
Determine factors associated with the presence of steatosis or hepatic fibrosis
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Oct 2024
- Study start30 Jan 2025
- Primary completion22 Oct 2026
- Study completion22 Oct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Heterozygous Familial HypercholesterolemiaStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital, Angers, Rennes University Hospital
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06634160
- Sponsor's protocol ID
- RC24_0064
- Other IDs
- 2024-A01647-40
- Acronym
- STEATO-FH
- Status last verified
- Oct 2026
- First submitted
- 4 Oct 2024
- Last updated
- 29 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD) Prevalence in Patients With Heterozygous Familial Hypercholesterolemia (HeFH): the STEATO-FH Study
- ClinicalTrials.gov ID
- NCT06634160
- Acronym / sponsor ID
- STEATO-FH / RC24_0064
- Keywords
- MASLD, Heterozygous Familial Hypercholesterolemia, steatosis, fibrosis
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Collaborators
- University Hospital, Angers, Rennes University Hospital
- Study start
- 30 Jan 2025 (actual)
- Primary completion
- 22 Oct 2026 (actual)
- Study completion
- 22 Oct 2027 (estimated)
- First posted
- 9 Oct 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Study population | – | Diagnostic Test: Fibroscan, Other: Sample collectionThe 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. |
Who may qualify
- Ages
- 35 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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)
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| FibroscanEvaluation of the prevalence of steatosis by measuring ultrasound attenuation with Fibroscan® (non-invasive method, at a distance from a meal (3h fasting)). | Diagnostic test | Study population |
| Sample collection20 mL whole blood sample | Other | Study population |
Primary outcome
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)
7 secondary outcomes
Establish the prevalence of hepatic fibrosis
Time frame: 1 day
Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis
Time frame: 1 day
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
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
Evaluate the proportion of patients with hepatic steatosis or fibrosis according to the nature of the genetic mutation
Time frame: 1 day
Evaluate the link between the presence of hepatic steatosis or fibrosis and the risk of cardiovascular disease
Time frame: 12 months
Determine factors associated with the presence of steatosis or hepatic fibrosis
Time frame: 1 day
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
Related trials for Heterozygous Familial Hypercholesterolemia
Not yet recruitingPhase 1/2
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
Heterozygous Familial Hypercholesterolemia (HeFH)
Recruiting
The ORIGIN-FH Study
Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH)
RecruitingPhase 2/3
A Study of Enlicitide Decanoate (MK-0616, an Oral PCSK9 Inhibitor) in Children and Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0616-029)
Heterozygous Familial Hypercholesterolemia (HeFH)
Not yet recruitingPhase 2
A Study of VERVE-102 (LY4636581) in Adults With or at High Risk for Cardiovascular Disease
Atherosclerosis, Cardiovascular Disease
RecruitingPhase 3
Long-term Safety and Tolerability of Inclisiran in Participants With HeFH or HoFH Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20, or ORION-19 Studies
Heterozygous or Homozygous Familial Hypercholesterolemia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Heterozygous Familial Hypercholesterolemia, run by Nantes University Hospital at 3 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Presence of steatosis in HeFH patients (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.