View clinical trials related to Familial Hypercholesterolemia.
Filter by:We 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.
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetcs and pharmacodynamics of single- and multiple doses of ARO-ANG3 in healthy adult volunteers and in dyslipidemic patients including familial hypercholesterolemia and severe hypertriglyceridemia.
This is a genomic implementation project with ancillary studies to understand the impact on patients' health and well-being of returning genomic results to them and depositing those results in the medical record.
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease. In addition, a clinical aim of the project is to explore the effectiveness of screening the relatives of individuals affected by FH and other lipid disorders ("cascade" screening) within Emirati families.
1. Primary Objective To estimate the prevalence of clinical diagnosed familial hypercholesterolemia, as well as the clinical characteristics and current treatment, with applying China recent issued FH screening protocol in pilot outpatient department of China. 2. Study Design The study is a prospective observational research study of clinical diagnoses FH patients in outpatient department in pilot hospitals to evaluate the screening out rate and the clinical feature and management of FH patients including HoFH, with applying China recent issued FH screening protocol. 3. Eligibility 3.1.Inclusion Criteria Written inform consent provided. Male and female cardiovascular outpatients and inpatients with LDL-C>4.65mmol/L if statin naïve or LDL-C>3.7mmol/L if on statin treatment before enrollment during Sept.2017 to Sept. 2019. 3.2Exclusion Criteria Subjects who cannot understand study procedure Subjects diagnosed as secondary dyslipidemia 4. Primary Endpoint - The screening out rate of clinical diagnosed familial hypercholesterolemia, with applying China recent issued FH screening protocol in subjects with LDL-C>4.65mmol/L if statin naïve or LDL-C>3.7mmol/L if on statin treatment in pilot outpatient department of China. - The clinical characteristics of clinical diagnosed FH patients(including HoFH and HeFH), including: demography, medical history, family history, sign and symptoms, lab testing and cardiovascular imagine result. - The pharmaceutical therapy for clinical diagnosed FH patients (including HoFH and HeFH), including the type of medication, proportion for each medication, dosage and treatment duration.
The primary goal is to assess the impact of Evolocumab therapy on platelet function of familial hypercholesterolemia (FH) patients in a randomized, double blind study. Evolocumab is a humanized monoclonal antibody that targets circulating PCSK9, increases hepatic LDL receptor, decreases plasma LDL cholesterol and reduces risk of cardiovascular events. Evolocumab (brand name Rapatha) has been approved by FDA along with diet and maximally tolerated statin therapy in adults with FH or atherosclerotic heart or blood vessel problems, who need additional lowering of LDL cholesterol. The secondary goal is to determine if platelet activation or the response to Evolocumab therapy is modified by rs3184504 polymorphism. The investigators believe that these investigations will complement ongoing studies to demonstrate that Evolocumab reduces athero-thrombotic risk and aid the decision-making as to whether Evolocumab can reduce the atherothrombotic risk in acute coronary syndrome (ACS) patients.
Aortic stenosis (AE) is a disease that has been increasing steadily in recent years in most countries, including Spain.Risk factors for the development of AE include age, hypercholesterolemia, diabetes mellitus and arterial hypertension, the classic risk factors for the development of atherosclerosis. However, lipid-lowering therapy with statins and ezetimibe has not been shown to reduce the risk of long-term progression of AE by unknown mechanisms. All this suggests that subjects with HFhe have a high risk of developing AD, which has not been shown by the high coronary mortality in this population that precedes aortic calcification
The purpose of this study is to validate the use of the FH Foundation FIND FH® Algorithm as a clinical decision support tool. FIND FH (Flag/Identify/Network/Engage) is a national initiative that utilizes machine learning and data mining techniques to identify individuals whose profiles are consistent with FH patients. The algorithm will be tested in adults with at least one cardiovascular comorbidity. Study subjects will be asked to provide either a saliva, buccal or venous blood sample for DNA and biomarker analysis
Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated levels of total cholesterol (TC) and low-density lipoprotein (LDL) cholesterol, the presence of tendon xanthomas, and premature atherosclerosis. The homozygous form of familial hypercholesterolemia (HoFH) with autosomal dominant transmission, in which case both alleles of either LDLR, APOB, or PCSK9 gene are defective, is a rare genetic disorder with prevalence estimated to be one per million population. Large scale genetic screening for active FH cases finding has been performed in the Netherlands, Spain, Norway and Wales. However, the FH population and prevalence in Taiwan have never been formally studied. Patients are usually not under appropriate treatment owing to lack of standardized diagnostic tool and treatment strategy for FH. Moreover, with the emerging of new classes of LLTs, including microsomal triglyceride transfer protein (MTP) inhibitor, antisense oligonucleotide inhibitor, and PCSK9 inhibitors, even homozygous FH patients now have better chance to be treated to reach recommended treatment goals. Therefore, A National FH registry is needed to collect contemporary data on diagnosis, treatment and outcomes with long- term goals of improving diagnosis, management, and reduction of unnecessary cardiovascular events in FH population in Taiwan.
Familial hypercholesterolemia (FH) [heterozygous (heFH) or homozygous FH (hoFH)] is a common genetic disorder, characterized by elevated plasma low density lipoprotein (LDL) cholesterol concentration leading (if untreated) to cholesterol deposits in the corneas, eyelids and extensor tendons, rapidly progressing vascular disease, and aortic valve disease.