Active clinical trials for "Hyperlipoproteinemia Type II"

The study aims to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH) compared to women without FH. Women with and without FH who are pregnant or planning pregnancy will be recruited, and will be invited to repeated study visits from the end of pregnancy and through the first year after delivery. Blood samples and data on anthropometry, health, pregnancy, lifestyle and diet will be collected. Statin transfer into breast milk will also be measured in breast milk samples collected when the women end breastfeeding the child and start statin treatment.

True prevalence of FH in the Russian Federation is unknown which leads to low percentage of diagnosed and treated cases. Research is needed to determine the prevalence of FH, specific diagnostic algorithms and optimal treatment strategies. The main aim of the present study is to evaluate the extent to which FH is underdiagnosed and undertreated in the Russian Federation for reduction of cardiovascular risk related to atherosclerosis in the country. As a first step, total cholesterol (TC) and low-density lipoprotein (LDL-C) levels will be determined in a random sample from Moscow population (n=18000). It is expected that TC ≥ 7.5 mmol/L will be detected in 10% of cohort. During 2014, approximately 500 patients will pass through non-invasive clinical examination at the Russian Cardiology Research and Production Center, including patient demographics, past medical history, family history of hypercholesterolemia, physical findings, current lipid-lowering therapies, blood tests, genetic analysis, echocardiography, carotid duplex ultrasound and exercise SPECT imaging in selected cases. On the basis of the Moscow Program four major Federal Medical Centers will be involved, and FH Registry will be created as a national, multi-center initiative to screen FH patients, control their diagnosis and management, and track clinical-reported outcomes over time. Establishment of National Guidelines for the diagnosis and treatment of FH on the basis of these data and implementation those into clinical practice in different regions of Russia will allow improving patient care. As an expected outcome, this program will raise awareness and increase appropriate assessment and treatment of FH patients in Russia, leading to a timely detection of the disease and therapy initiation.

SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain.

mRNA therapy is a highly promising gene therapeutic strategy in the treatment of Homozygous Familial Hypercholesterolemia (HoFH). Exosomes is safe and efficient carriers for mRNA drug delivery, due to their biocompatibility, bioavailability. This first-in-human study is aimed to evaluate the safety and preliminary effectiveness of Exosome-based ldlr mRNA nanoplatform for gene therapy in HoFH.

The project is a national, prospective, multicenter, non-interventional pilot project of screening for the disease Familial hypercholesterolaemia (FH) in newborns in the Czech Republic. The main goal of the project is to methodically prepare, implement and evaluate a pilot project that will verify the suitability of the proposed procedure of early detection of Familial hypercholesterolaemia in such a way as to ensure the maximum positive impact on the health of the population and high cost-effectiveness of the whole process.

Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, reports shows that FH is under-diagnosed and under-treated. Efforts to tackle the global burden of FH have been hindered by a lack of global cohesion, with data held in disparate formats across many sites/countries, resulting in fragmentation and lack of harmonized data from different cohorts. A lack of structure and the availability of limited resources have made it hitherto difficult to integrate these cohorts thus far. The EAS FHSC is a global initiative of stakeholders involved in the care of people living with FH that seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data are sourced from multiple active national/regional/local registries across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry where data is standardised, pooled, harmonised and integrated into a single global database. The FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. This multi-national pooled dataset facilitates clinical observational (non-interventional) studies to address multiple scientific inquires. This hypothesis-free epidemiology research will report on the characteristics of FH worldwide more accurately and inform the development of clinical guidelines and healthcare policy.

The CASCADE-FH Registry is a national, multi-center initiative that will track the therapy, clinical outcomes, and patient-reported outcomes over time. The registry represents a collaboration between The Familial Hypercholesterolemia Foundation, the Duke Clinical Research Institute, lipid specialists, cardiologists, primary care providers, quality improvement personnel, and patients, all aiming to increase FH awareness, promote optimal disease management, and improve FH outcomes.

Homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder caused by bi-allelic mutations in the LDL Receptor pathway, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth and premature atherosclerotic cardiovascular disease (ASCVD). Our current knowledge about HoFH is disjointed and largely stems from relatively small case series and expert opinion. HICC (Homozygous FH International Clinical Collaborators) is a global consortium of clinicians who are contributing de-identified data of patients diagnosed with HoFH with the goal to advance our understanding of this rare disease.

Familial hypercholesterolaemia (FH) is a genetic disorder characterised by elevated plasma LDLC levels. The causal role of low-density lipoprotein cholesterol (LDLC) in the progression of cardiovascular disease (CVD) is indisputable: genetic, epidemiological and interventional trials have unanimously shown that a reduction in LDL-C is associated with a reduced risk of CVD. Some drawbacks related to the limitations of the analytical methods are slowly surfacing due to the lower LDLC target achieved with the combination of several new treatments. This is mainly due to the fact that LDLC is not a comprehensive marker to stratify cardiovascular risk in subjects with increased levels of other atherogenic lipoproteins. Direct measurement of the concentration of apolipoproteins involved in cholesterol and triglycerides transportation, may provide more information than the simple measure of the cholesterol contained in these particles. There is an interest in measuring the various players involved in the lipoprotein processing chain. These apolipoproteins are increasingly being considered as possible biomarkers of cardiovascular disease risk. Indeed, there is increasing evidence that advanced lipoprotein testing methods, such as multiplexed measurements of apolipoprotein panels (ApoA-I, A-II, A-IV, B-100, C-I, C-II, C-III, E), provide more detailed information on the dyslipidaemic profiles of patients compared to conventional lipid testing, finally allowing a better understanding and stratification of subclinical atherosclerosis in these patients. The main objective of this study is to compare the apolipoprotein profile of patients with FH by comparing those with associated hypertriglyceridemia (hyperTG) to those with isolated hypercholesterolaemia. Adult subjects with a molecular diagnosis of Familial Hypercholesterolemia, treated by a statin, on primary prevention, asymptomatic for cardiovascular symptoms, will be recruited and stratified according to the presence/absence of hyperTG in a case-control prospective observational study design.

Protein convertase subtilisin kexin type 9 (PCSK-9) inhibitors demonstrated efficacy in cholesterol reduction and in the prevention of cardiovascular events. The investigators will evaluate changes in lipid profile, oxidation markers and subclinical atherosclerosis in patients with familial hypercholesterolemia (FH) during 12 weeks of treatment with a PCSK-9 inhibitor, Evolocumab®.