HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism

RC14_0400

The aim of this study is to identify new targets in cholesterol metabolism thanks to a genetically-based strategy.

2016-01-07

2022-01-07

2032-01-07

Active (not recruiting)

435

Inclusion Criteria: * For index cases without family screening: o Patient with HBL: fasting LDL-C ≤ 50 mg/dl. * For familial affected cases: * Relative with HBL: fasting LDL-C ≤ 80 mg/dl and/or Apo B ≤ 50 mg/dl and at least one related family case suffering from HBL. All subjects, including familial non-affected cases, must give written consent (dated and signed) to participate at the constitution of biobank (including DNA samples and urine samples). Exclusion Criteria: * Use of lipid-lowering drugs (statins, fibrates, ezetimibe, bile-acid sequestering resin) or nutraceuticals known to affect lipids (red yeast rice, margarine and dairy with plant sterol) * Patient screened within an extreme metabolic disturbance (emergency situations, sepsis, hospitalization in intensive care unit) * Patients with hyperthyroidism, severe liver failure, end stage chronic kidney disease, serious pancreatic failure, anemia related to thalassemia or sickle cell disease, strict vegan diet or malnutrition * Refusal of the patient or his legal representative to participate in the study"

{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'primaryPurpose': 'OTHER', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 435, 'type': 'ACTUAL'}}

2023-08-04