Postprandial Lipid Metabolism in Familial Hypercholesterolaemia:Effects of Fish Oils
HypertriglyceridaemiaFamilial HypercholesterolaemiaThe purpose of this study is to determine whether fish oil supplementation is effective in the treatment of abnormal fat metabolism in subjects with elevated cholesterolaemia.
Coronary and Heart Effects of Early Treatment in Familial Hypercholesterolemia
Familial HypercholesterolemiaThis study evaluates plaque burden and characteristics in early-treated FH patients compared to late-treated FH patients and healthy individuals.
Effect of APL180 on Endothelial Function in Familial Hypercholesterolemia Patients
Familial HypercholesterolemiaThis study will evaluate the effect of APL180 on endothelial function measured by forearm venous occlusion plethysmography in patients with familial hypercholesterolemia.
Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia...
HypercholesterolemiaFamilialThe purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for HoFH.
Amlodipine/Atorvastatin (Caduet®) Drug Use Investigation (Regulatory Post Marketing Commitment Plan)...
HypertensionAngina Pectoris2 moreIn this survey, to collect the safety and efficacy information of Amlodipine /Atorvastatin (Caduet® Combination Tablets) in daily medical practice will be examined. In addition, the necessity of special Investigation and post-marketing clinical studies will be examined, while investigating unexpected adverse drug reactions during the survey period and understanding of the status of frequency of adverse drug reactions in daily medical practice.
Improving Identification of Familial Hypercholesterolaemia in Primary Care (FAMCAT)
Familial HypercholesterolemiaMulti-centre, non-randomised, non-controlled quasi-experimental study with nested qualitative study and economic appraisal. Improving the identification of patients at high risk of cardiovascular disease in primary care, caused by conditions such as familial hypercholesterolaemia (FH), is a well-recognised national priority to prevent morbidity and mortality by early effective intervention. This study will prospectively evaluate the clinical utility of the new primary care FH identification tool (FAMCAT) for identifying undiagnosed FH in routine primary care practice; and to assess its appropriateness, acceptability and cost-effectiveness. This study will answer the following research questions (RQ): What is the detection rate for new genetically-confirmed FH cases using the FAMCAT algorithm? Is the FAMCAT tool appropriate and acceptable to practitioners and patients? How can the FAMCAT tool be optimised to improve identification of FH? What is the potential cost-effectiveness of the FAMCAT tool compared with current practice to identify patients with FH? Can the FAMCAT intervention be improved? What definitive study design and outcome measures are needed to provide robust evidence on whether to introduce FAMCAT into primary care practice? RQ(1) & (3) will be answered by a quasi-experimental diagnostic accuracy study; RQ(2) & (5) answered by qualitative study; RQ (4) answered by economic appraisal and RQ(6) informed by all previous studies.
Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
HypercholesterolemiaFamilialTo test the hypothesis that in patients with a clinical diagnosis of familial hypercholesterolemia (FH), genetic testing and identification of a causative mutation might enhance the success of family-based cascade screening.
Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels...
Familial HypercholesterolemiaFamilial hypercholesterolemia (FH) is an autosomal codominant single gene disorder caused by mutations in the LDL receptor gene (LDLR) that disrupt the normal clearance of LDL particles from the plasma. Heterozygous patients (HeFH) present a two- to three-fold raise in plasma LDL-cholesterol (LDL-C) concentrations and coronary artery disease occurs earlier among HeFH carrying negative-receptor (NR) mutations as compared with HeFH subjects carrying defective-receptor (DR) variants. Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates LDL-C levels by binding to LDLR and by enhancing its intracellular degradation. The objective of this study is to examine to what extent variations in LDL-C and Lipoprotein (Lp) (a) concentrations are related to PCSK9 levels in a large French-Canadian cohort of HeFH subjects. The primary hypothesis is that that PCSK9 levels have a significant impact on LDL-C concentration variability and are associated with Lp(a) levels.
Effects of Low-density Lipoprotein (LDL) Apheresis on Inflammatory and Lipid Markers
Familial HypercholesterolemiaThe primary objective of this study is to measure how LDL apheresis affects levels of inflammatory and cholesterol markers in human beings. The investigators will address this question by drawing pre- and post-LDL apheresis blood from patients who are undergoing this procedure. A secondary objective of this study is to learn how specific inflammatory markers behave in our blood in terms of time to rebound back to normal levels. The investigators will address this question by drawing post-LDL apheresis blood at predetermined time intervals.
Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
Homozygous Familial HypercholesterolemiaIdentify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.