Genetic Causes of Familial Hypercholesterolemia
Familial HypercholesterolemiaFamilial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.
Study of Alirocumab (REGN727/SAR236553) in Patients With heFH (Heterozygous Familial Hypercholesterolemia)...
Heterozygous Familial HypercholesterolemiaThis is a randomized, double-blind, placebo-controlled, parallel-group, multi-national study alirocumab (REGN727/SAR236553) in patients with Heterozygous Familial Hypercholesterolemia (heFH) who are not adequately controlled with their Lipid-Modifying Therapy (LMT).
Postprandial Response After Intake of Meals With Different Fatty Acid Composition
HealthyFamilial HypercholesterolemiaThe aim of the study is to understand more about how different fatty acids modulate postprandial lipid metabolism and inflammatory response.
NHLBI Type II Coronary Intervention Study
Cardiovascular DiseasesCoronary Disease5 moreTo determine whether lowering of cholesterol with cholestyramine in a population with Type II hyperlipidemia led to a decreased rate of progression (a regression of coronary artery disease) as demonstrated by death, myocardial infarction, or progression of disease on angiography.
Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Homozygous Familial Hypercholesterolemia...
Homozygous Familial HypercholesterolemiaThis is a single center, open-label study to evaluate the efficacy of AKCEA-ANGPTL3- LRX for reduction of low density lipoprotein cholesterol (LDL-C) levels in patients with Homozygous Familial Hypercholesterolemia (HoFH).
Study of Coronary Calcification in Subjects With Autosomal Dominant Familial Hypercholesterolemia...
Familial Hypercholesterolemia - HeterozygousFamilial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by elevated plasma levels of LDL-C cholesterol. This early and significant elevation of LDL-C triggers premature atherosclerosis, particularly coronary artery disease. The initiation and management of LDL-C therapies is based on cardiovascular risk assessment. Although this is undoubtedly higher than in normocholesterolemic patients, a significant heterogeneity in heFH patients still persists that is not completely explained. Moreover, the evaluation of cardiovascular risk in patients with heFH is difficult for many reasons: non-validity of risk scores, futility of a risk calculation limited to 10 years in a young patient, late positivity of stress tests . Therefore, there is a clear need for new cardiovascular risk assessment tools to identify higher risk heFH patients who could benefit from early and aggressive treatment. The Coronary Artery Calcium (CAC) Score has been widely studied in the US and validated in European recommendations, and has shown the best reclassification index for patients at intermediate cardiovascular risk. A CAC score of zero is associated with a very low risk of event irrespective of the number of risk factors. Non-calcified plaques are by definition not detected by ACC and patients with CAC = 0 may only have soft non-calcified plaques. The prevalence of these non-calcified plaques in very high-risk patients with acute coronary syndrome is 5%. The prevalence in FH patients is unknown. It has also been shown that the extent of the atherosclerotic burden is related to cardiovascular risk. CAC score has been poorly evaluated in heFH patients. However, hypercholesterolemia and calcifications have been shown to be correlated: supra-aortic calcified masses in homozygous FH patients, early calcifications associated with chronic exposure to high LDL-C (cholesterol burden, equivalent to cigarettes) and finally, the calcifying role of statins. The early increase of LDL-C in patients with genetic forms of FH causes premature cardiovascular damage. Investigators' hypothesis is that patients with FH have earlier coronary atheroma (and thus calcifications and non-calcified plaques) due to exposure early in life to high levels of LDL-cholesterol.
Evaluating the Efficacy of Pediatric Lipid Screening Alerts
HypercholesterolemiaHypercholesterolemia3 moreThe purpose of the study is to evaluate prospectively the impact of different system alerts on the prescription of lipid panels to pediatric Geisinger patients (9-11 years old), as per the now-universal guidelines. This will help quantify the relative effectiveness of different alerts and combinations of alerts on provider prescribing behavior and patient uptake of screening.
Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia...
Homozygous Familial HypercholesterolemiaThis is a Phase 3 single-arm, open-label, international, multi-center clinical trial to evaluate the efficacy and safety of lomitapide in pediatric patients with HoFH who are receiving stable lipid-lowering therapy, including LDL apheresis. The study is comprised of a 12-week Run-in Period, a primary 24-week Efficacy Phase, followed by an 80-week Safety Phase.
A Prospective Cohort Study on Familial Hypercholesterolemia in Health Examination Population
Familial HypercholesterolemiaTo determine the prevalence and the prognosis in a corhort of patients with familial hypercholesterolemia (FH).
Cross-over Pilot Study of Blood Cholesterol Response to Dietary Saturated Fat in Patients With Autosomal...
Familial HypercholesterolemiaWe are performing a pilot cross-over diet study involving 5 patients with heterozygous FH and 5 patients with unexplained ADH. The patients will be randomized to a low versus high saturated fat diet for 4 weeks each. We hypothesize that patients with unexplained ADH may have an exaggerated cholesterol response to saturated fat intake. The specific aim of this study is to quantify the increase in LDL-C in unexplained ADH patients compared to FH patients. The pilot study proposed here will develop preliminary data to be used for future funding proposals of larger, randomized studies.