Ignite Creation Date:
2025-12-25 @ 2:01 AM
Ignite Modification Date:
2025-12-28 @ 1:33 AM
Study NCT ID:
NCT06634160
Status:
RECRUITING
Last Update Posted:
2025-02-06
First Post:
2024-10-04
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D005234', 'term': 'Fatty Liver'}, {'id': 'D005355', 'term': 'Fibrosis'}], 'ancestors': [{'id': 'D008107', 'term': 'Liver Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D013048', 'term': 'Specimen Handling'}], 'ancestors': [{'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Two tubes of 10 mL blood each will be collected per patient in the study.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 200}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-01-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-02', 'completionDateStruct': {'date': '2028-01-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-02-05', 'studyFirstSubmitDate': '2024-10-04', 'studyFirstSubmitQcDate': '2024-10-08', 'lastUpdatePostDateStruct': {'date': '2025-02-06', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-10-09', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-01-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Identify blood biomarkers associated with hepatic steatosis and fibrosis', 'timeFrame': '1 day'}], 'primaryOutcomes': [{'measure': 'Presence of steatosis in HeFH patients', 'timeFrame': '1 day', 'description': 'Presence of steatosis in HeFH patients assessed by Fibroscan® measurement of CAP (Controlled Attenuation Parameter) ≥ 275 dB/m (Berzigotti et al., 2021)'}], 'secondaryOutcomes': [{'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'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['MASLD', 'Heterozygous Familial Hypercholesterolemia', 'steatosis', 'fibrosis'], 'conditions': ['Heterozygous Familial Hypercholesterolemia']}, 'descriptionModule': {'briefSummary': 'The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population.', 'detailedDescription': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '35 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '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.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patient aged 35 or over\n* Consultation at Nantes, Rennes or Angers University Hospital during the inclusion period\n* With a diagnosis of familial hypercholesterolemia defined by the presence of a genetic variant, ACMG classes 4 \\& 5 on LDLR, APOB or PCSK9\n* Patient not objecting to inclusion in study (no written objection)\n\nExclusion Criteria:\n\n* Protected patients: minors, adults under guardianship, curatorship and/or safeguard of justice\n* Pregnant or breast-feeding\n* Active viral hepatitis\n* Hemochromatosis\n* Other genetic or autoimmune hepatitis\n* Current treatment with a drug likely to cause hepatic steatosis, including amiodarone, carbamazepine, tamoxifen, valproate, clozapine, anti-retrovirals\n* Current oral corticosteroid therapy unless dose has been stable for ≥ 3 months\n* Current pathological alcohol consumption (≥ 60 g/day in men and ≥ 50 g/day in women)'}, 'identificationModule': {'nctId': 'NCT06634160', 'acronym': 'STEATO-FH', 'briefTitle': 'Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia', 'organization': {'class': 'OTHER', 'fullName': 'Nantes University Hospital'}, 'officialTitle': 'Assessment of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD) Prevalence in Patients With Heterozygous Familial Hypercholesterolemia (HeFH): the STEATO-FH Study', 'orgStudyIdInfo': {'id': 'RC24_0064'}, 'secondaryIdInfos': [{'id': '2024-A01647-40', 'type': 'OTHER', 'domain': 'IDRCB (ANSM)'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Study population', 'description': '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.', 'interventionNames': ['Diagnostic Test: Fibroscan', 'Other: Sample collection']}], 'interventions': [{'name': 'Fibroscan', 'type': 'DIAGNOSTIC_TEST', 'description': 'Evaluation of the prevalence of steatosis by measuring ultrasound attenuation with Fibroscan® (non-invasive method, at a distance from a meal (3h fasting)).', 'armGroupLabels': ['Study population']}, {'name': 'Sample collection', 'type': 'OTHER', 'description': '20 mL whole blood sample', 'armGroupLabels': ['Study population']}]}, 'contactsLocationsModule': {'locations': [{'zip': '49933', 'city': 'Angers', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sandrine LABOUREAU', 'role': 'CONTACT', 'email': 'sandrine.laboureau@chu-angers.fr', 'phone': '02 41 35 45 93'}, {'name': 'Sandrine LABOUREAU', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU angers', 'geoPoint': {'lat': 47.47156, 'lon': -0.55202}}, {'city': 'Nantes', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sarra SMATI', 'role': 'CONTACT', 'email': 'sarra.grangeon@chu-nantes.fr', 'phone': '02 53 48 27 19', 'phoneExt': '+33'}], 'facility': 'CHU Nantes', 'geoPoint': {'lat': 47.21725, 'lon': -1.55336}}, {'zip': '35033', 'city': 'Rennes', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'François PAILLARD, Dr', 'role': 'CONTACT', 'email': 'francois.paillard@chu-rennes.fr', 'phone': '02.99.28.25.40'}, {'name': 'François PAILLARD, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Rennes University Hospital', 'geoPoint': {'lat': 48.11109, 'lon': -1.67431}}], 'centralContacts': [{'name': 'Sarra SMATI', 'role': 'CONTACT', 'email': 'sarra.grangeon@chu-nantes.fr', 'phone': '02 53 48 27 19', 'phoneExt': '+33'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Nantes University Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'University Hospital, Angers', 'class': 'OTHER_GOV'}, {'name': 'Rennes University Hospital', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}