60 Clinical Trials for Various Conditions
Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed. Design: Participants will be screened with a medical record review. Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body. Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history. Participation will last for several years.
The underlying hypothesis is that whole body cholesterol - including cholesterol present in tissues that cannot be measured by standard blood tests - is related to heart disease risk. Endogenous cholesterol will be labeled with an intravenous infusion of one type of cholesterol tracer and dietary cholesterol will be labeled with another. These tracers will be used to measure how fast cholesterol is synthesized and excreted using mass spectrometry to distinguish the tracers. Data will be related to circulating biomarkers (blood tests) and to the thickness of the lining of the carotid artery. The effect of the drug ezetimibe on these processes will also be determined. Successful completion of this study will give us more knowledge about cholesterol metabolism that may be useful in designing new drugs and treatments for patients with heart disease, especially those that are already receiving maximum amounts of current medications.
We hypothesize that administration of anti-inflammatory medications such as celecoxib, naprosyn and diclofenac will cause changes in the blood plasma and white blood cells of patients such that they will be less able to efficiently process cholesterol.
The purpose of study is to explore the effect of CP-690,550 (tasocitinib) on cholesterol metabolism in patients with active rheumatoid arthritis (RA).
HMG CoA reductase inhibitors (statins) are commonly used to treat high cholesterol (HC) in both type 1 and type 2 diabetes mellitus (DM). Several studies have shown benefits of statin among patients of type 2 DM, however, no such data is available for patients with type 1 DM. It is known from studies on cholesterol metabolism using surrogate markers that patients with type 1 DM have higher cholesterol absorption compared to normals and those with type 2 DM have higher cholesterol synthesis. Since statins inhibit synthesis, patients with type 1 DM may not have a good response and may respond better to cholesterol absorption inhibitors. The purpose of this study is to determine the cholesterol lowering effects of cholesterol absorption inhibitors and cholesterol synthesis inhibitors in subjects with type 1 and type 2 diabetes mellitus.
Phytosterols and ezetimibe each reduce intestinal cholesterol absorption by 30-55% but appear to have different mechanisms of action. The investigators' hypothesis is that phytosterols and ezetimibe given together will block cholesterol absorption in an additive fashion. In a randomized, placebo-controlled crossover trial the effects of placebo, ezetimibe treatment and ezetimibe plus phytosterol treatment will be measured.
The objective of this study is to compare cholesterol absorption and metabolism after feeding diets naturally low or high in phytosterols. All meals will be prepared in a metabolic kitchen and analyzed for phytosterols. In a randomized crossover design a group of up to 25 healthy subjects will consume diets containing either 100 mg/day or 600 mg/day phytosterols for 4 weeks. At the end of each dietary period percent cholesterol absorption, fecal cholesterol excretion and LDL cholesterol level will be measured. The hypothesis is that LDL cholesterol and cholesterol excretion will be improved on the high phytosterol diet even though macronutrient composition, mineral intake and fiber consumption are similar.
The purpose of this study is to understand how the reduction in dietary carbohydrates in a very-low carbohydrate ketogenic diet impacts the synthesis of cholesterol, fatty acid, and ketones, and the turnover rate of VLDL and chylomicron particles.
This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll. Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis. Medical information will also be gathered from medical records, photographs, and X-rays.
RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).
Agents that increase HDL-C via reverse cholesterol transport could provide a new therapeutic option for the prevention of atherosclerotic cardiovascular disease. The investigators propose to investigate the effects of LY518674 on components that may likely affect atherogenesis in patients with the metabolic syndrome including HDL-C metabolism and reverse cholesterol transport pathways, the inflammatory response, and oxidative stress in human subjects. As an agonist of the nuclear peroxisome proliferator activated receptor (PPAR) alpha, LY518674 may affect the transcription of genes that encode various proteins involved in atherogenesis. This study will explore the consequences of altered transcription such as changes in messenger ribonucleic acid (mRNA) and protein levels as well as protein activity.
This study addresses the second aim of the grant (R01 HD0899455), which is to determine temporal changes in CYP3A4-mediated drug metabolism sequentially across pregnancy and after birth.
The purpose of this study is to determine the effectiveness of ProAlgaZyme in increasing levels of HDL 'good' cholesterol and decreasing total cholesterol and C-reactive protein in patients with Metabolic Syndrome.
Our hypothesis is that TA-65, a dietary supplement will help to reduce insulin resistance and plasma glucose in individuals classified with metabolic syndrome.
Primary Objective: To assess the effects of subcutaneous (SC) doses of alirocumab on the elimination (measured by Fractional Clearance Rate (FCR)) of apolipoprotein B (apoB) in low density lipoprotein (LDL) in adults with mildly elevated LDL-cholesterol (LDL-C). Secondary Objectives: To assess the effects of SC doses of alirocumab on: * Various parameters of the metabolism and turnover in plasma of different lipoproteins * Plasma lipids concentration: total cholesterol, high density lipoprotein cholesterol (HDL-C), triglycerides, low density lipoprotein cholesterol (LDL-C), apoB, lipoprotein(a) (Lp(a)) * Lipoprotein particle size profile * PCSK9 (free and total) concentrations in serum To assess safety and tolerability of alirocumab. To assess emergence of anti-alirocumab antibodies. To document serum alirocumab concentrations.
The purpose and objective of this study is to improve cholesterol treatment among blood donors with FH (Familial Hypercholesterolemia).
Quercetin is a natural flavonoid compound widely found in vegetables, fruits, and nuts. It has a long history of use as a dietary supplement. This study aims to assess results from a computational model suggesting that quercetin may offer novel benefits to metabolic health. Participants will take quercetin (as Quercetin Phytosome, a proprietary formulation with enhanced absorption properties) for 90 days while keeping lifestyle habits consistent throughout to estimate net effects of quercetin as much as possible. Blood samples will be collected at the beginning and end of the study to assess the effects of quercetin supplementation on metabolic health metrics such as LDL cholesterol, blood sugar, liver, kidney and immune function and calculated metabolic age. In addition, questionnaires will be completed to ensure compliance with study requirements and assess potential quercetin benefits in the participants' quality of life. This work will provide a proof-of-concept from a computational model of nutraceutical compounds and proposes a new application of quercetin in support of healthy human metabolism.
The rationale of this research is that deep phenotyping of individuals at the extremes of cholesterol efflux will identify key determinants of efflux that are potential novel therapeutic targets to prevent or reverse Atherosclerotic Cardiovascular Disease (ASCVD). The investigators propose to carry out the objective by studying participants at extreme low and high cholesterol efflux identified from the investigator's study in the population-based Dallas Heart Study by accomplishing the following aims: 1) determine the heritability of and genomic factors associated with cholesterol efflux by establishing a family pedigree of extreme low and high efflux and sequencing candidate genes involved in HDL metabolism; and 2) identify the protein and lipid signature of extreme low and high cholesterol efflux in a sex- and ethnicity-specific manner using mass spectroscopy and ELISA in FPLC-derived fractions. The investigators expect to identify genetic variants and sex- and ethnicity-specific combinations of proteins and lipids in participants with extreme low and high efflux that may lead to novel ways to modulate efflux. This proposal leverages a well-phenotyped population-based study to characterize the gene-protein-lipid signature of 1) extremes of cholesterol efflux in a sex- and ethnicity-specific manner. Successful completion of these aims will have immediate and direct impact on the use of cholesterol efflux as a clinically relevant biomarker of therapeutic benefit and are necessary for the clinical development of appropriate new targets for manipulation of the key atheroprotective function of cholesterol efflux to reduce ASCVD.
The Physicians Committee is carrying out a research study to improve the investigator's understanding and expand the literature to quantify the effect of foods on blood cholesterol. This study will measure changes in low density lipoprotein (LDL) concentration, sometimes called "bad cholesterol," over 2 study periods of 4 weeks each, with 1 rest week in between. Approximately 50 subjects will participate in this study.
This study will investigate the effects of curcumin on the structure/function of the body by investigating whether targeted improvement of intestinal barrier function by supplementation with oral curcumin will result in attenuation of lipopolysaccharide (LPS) translocation and/or intestinal inflammation.
In this study, we propose to investigate the effects of dietary achievable doses of strawberries on serum LDL-cholesterol (LDL-C) and related lipid profiles, measures of glycemia and insulin resistance, and biomarkers of inflammation in a 14 week controlled crossover study.
To determine if the addition of chardonnay grape marc (also called pomace) powder enriched with grape seed extract to the diet will result in reducing blood levels of cholesterol or triglycerides.
This is a multi-site, double-blind, randomized, controlled food intervention study being conducted at the Canadian Centre for Agri-Food Research in Health and Medicine (CCARM) in Winnipeg and the Mayo Clinic, Rochester, MN, to examine the effects of a portfolio of functional foods on blood glucose and lipids, and blood vessel function in individuals with prediabetes. A total of 116 participants (n=58/site) with prediabetes (hemoglobin A1c ≥6.0 \& \<7.0 and no glucose-lowering medications) and body-mass index (BMI) 18-40 will be recruited for a 12-week clinical trial to determine the effect of eating 2 items containing functional ingredients daily compared to 2 similar items lacking the functional ingredients. Study foods provided are to be incorporated into participant's usual diet.
The purpose of the study is to determine the effect of consumption of brown rice on the risk factors of metabolic syndrome (MetS) as compared to consumption of white rice. Brown and white rice will be provided in the form of rice cakes and 100g will be consumed per day for 5 weeks each. The investigators hypothesize that brown rice will have beneficial effects as it is rich in fiber and also phytochemicals.
Pycrinil® is a purified extract of the artichoke leaf. Artichoke leaf extract (ALE) has some clinical trial data suggesting benefit in the treatment of cholesterol disorders in several countries, but this effect has not been studied in a U.S. population. The investigators will give ALE or a placebo to overweight men and women with low "good" cholesterol to see if ALE increases their good cholesterol. The investigators will also make sure that ALE is safe.
Approximately 24% of the US adult population meet criteria for metabolic syndrome (MetS), diagnosed by a combination of abdominal obesity, elevated blood pressure, high triglyceride and low HDL-cholesterol level, and pre-diabetes. MetS quintuples the risk of diabetes, and doubles the risk of cardiovascular disease (CVD), particularly heart failure. Lifestyle modification is the initial step of treatment, but few studies have demonstrated early and sustained efficacy in remission of MetS. Our preliminary studies of a lifestyle change program for patients with MetS included a 1-year of development of an intervention by an interdisciplinary team of experts in medicine and the behavioral sciences. The investigators then tested the efficacy of the intervention in a treatment-only, proof-of-concept study. The investigators achieved our goal of 50% MetS remission after 2 years, in a sample of 26 patients. This study is the second step of a research program testing an innovative bio-behavioral intervention aimed at remitting MetS through lifestyle intervention, by focusing on eating patterns, daily activity, and stress management. The overarching objective of this research program is to determine the efficacy of the ELM lifestyle intervention to achieve remission of MetS. This purpose of the current study is to prepare for a large, randomized, clinical trial by conducting a smaller clinical trial that examines the acceptability of the ELM intervention (ELM Group) as compared to two other intervention arms (ELM Classes, ELM Individual).
This is a pilot study to determine the optimum time and dose to draw blood samples using a tracer for HDL kinetics.
The purpose of this study is to investigate the use of radiolabeled particulate cholesterol administered intravenously in association with albumin, as a method to study reverse cholesterol transport (RCT) in people carrying mutations in genes known to affect high density lipoprotein (HDL) metabolism by analyzing changes in the tracer activity in total plasma, lipoproteins fractions and feces.
Here we tested if statins or exercise plus statins had a greater capacity to lower metabolic syndrome risk factors in sedentary individuals with at least 2 metabolic syndrome risk factors. We also examined if statins impacted exercise response for mitochondrial content in muscle or aerobic fitness.
Prospective study on the structural and functional changes in the heart of adult women assessed by echocardiogram and in lipid metabolism that occur in response to physical training. Using echocardiogram we will characterize the early determinants of "athletic remodeling". We will also assess the effect of intense physical training on lipid metabolism, focus on HDL subspecies and function.