176 Clinical Trials for Metabolic Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them. Objective: To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people. Eligibility: Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers. Design: Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as: Swabs of their skin and inside the mouth. Tests of their heart, kidney, brain, and nerve function. Questionnaires about what they eat. Dental exams, and exams of their hearing and vision. Tests of their learning ability. Monitoring of their physical activity. Imaging scans. Photographs of their face and body. These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to. Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.
US residents who have obesity and sign the informed consent form and are screened and enrolled for this study. Participants who are enrolled complete a survey upon enrollment and are randomized into one of three arms. This study is direct to participant and will not utilize clinical sites.
This research is being done to learn if a new type of haploidentical transplantation using TCR alpha beta and CD19 depleted stem cell graft from the donor is safe and effective to treat the patient's underlying condition. This study will use stem cells obtained via peripheral blood or bone marrow from parent or other half-matched family member donor. These will be processed through a special device called CliniMACS, which is considered investigational.
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy in patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system (CNS) who are undergoing standard treatment with unrelated umbilical cord blood transplantation (UCBT). The secondary objective of the study is to describe the efficacy of UCBT with intrathecal administration of DUOC-01 in these patients.
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).
Consuming a carbohydrate-rich food as the final food in a meal, as compared to the first food in a meal, has been shown to reduce blood glucose levels after eating in both diabetes patients and in healthy controls. However, gaps remain in the literature in this area of research, and currently little is known about how substrate (fuel) use is impacted by altering food order. In addition, most studies to date have used a mix of meat and plant foods, while little research has focused exclusively on vegetarian foods. This randomized experiment will examine how altering the order of foods eaten in a vegetarian meal impacts blood glucose and fuel utilization at rest.
This randomized, triple-blind, placebo-controlled study will evaluate the efficacy of Diaberine, a berberine-based nutraceutical, in aiding blood sugar regulation and metabolism in 80 participants over 24 weeks.
Polyphenol-rich Haskap berries (Haskap) have untapped therapeutic potential to improve human health, and agricultural producers in northern U.S. states are poised to increase production if consumer demand increases. A critical knowledge gap is that little is known about the interactions between gut microbes and Haskap polyphenols to produce bioactive metabolites linked to downstream health impacts. Additionally, little is known about which Haskap varieties and harvest timing yield the greatest bioactive potential. This study aims to address these gaps by investigating the interaction of bioactive components in Haskap with gut microbiota and the resultant gut and serum metabolites, inflammation, and metabolic health, and then couple this with analysis of berries from different Haskap varieties and harvest times.
The goal of this randomized, crossover, clinical trial is to link: 1) gastrointestinal motility patterns induced by acute consumption of whole and refined grains, 2) enteric microbial production of bioactive metabolites, and 3) circulating postprandial appearance of metabolites important to cardiometabolic health including glucose, triglycerides, and cholesterol. Participants will be asked to consume a Smartpill monitoring device that records metrics of gastrointestinal motility in response to whole or refined grains, monitor cardiometabolic metabolties over an 8 hour postprandial window, and provide a fecal sample for microbiome-related analyses.
Fitness is one of the best predictors for heart and brain disease. To increase ones fitness, the American Heart Association (AHA) says to exercise at least 150 minutes per week or 75 minutes per week if really hard. These exercise guides are pretty effective, however not everyone will get the same results. What individuals do outside of the exercise bout can influence the effectiveness of exercise. One of these factors is our time sitting, which has caused the phrase "sitting is the new smoking". Other studies have said that the metabolic benefits of exercise are decreased when you exercise after a few days of low activity (less than 5,000 steps per day). This is important in that exercise may not be able to fully offset these times of inactivity. However, these studies were only looking at different fats in the blood. As exercise increases fat burn up to 10 times in the muscle, more research is needed to understand how inactivity affects the muscle during exercise and after exercise. This study will help answer two questions: 1) How does a day of sitting a lot affect the muscle's ability to respond to exercise? and 2) How does a day of sitting a lot affect carbohydrate and fat burn during and after a bout of exercise? The investigators will answer these questions by having people complete one day of inactivity (less than 5,000 steps) or normal activity (more than 8,500 steps). Subjects will then come in the next day to bike somewhat hard for 1 hour. The investigators will take blood samples before, during, and after exercise to measure energy sources. The investigators will also collect pieces of skeletal muscle before and after exercise to see how the muscle responded to exercise. This study is significant for the publication of exercise guidelines to minimize risk of heart and metabolic diseases.
There is well documented evidence that ingesting dietary carbohydrate in large amounts tends to increase postprandial glucose. In healthy populations, this is not necessarily a problem, but continuous exposure to high levels of glucose-hyperglycemia-is a defining characteristic and risk factor for type 2 diabetes mellitus. Consuming a carbohydrate-rich food as the final food in a meal sequence has been shown to significantly reduce postprandial glucose excursions in both diabetes patients and in healthy controls. The exact mechanisms behind this phenomenon are not well understood, but one proposed course is simply that the vegetable and protein already being digested slows the rate of glucose rise. Despite the findings, little-to-no research has examined how manipulating the order of foods in a meal impacts subsequent exercise responses. In this experimental crossover study, each participant will undergo two acute feeding conditions (carbohydrate-rich foods first vs. last in a meal), which will be followed by exercise 60 minutes later. We will observe the effects of meal order on postprandial glucose, substrate/fuel utilization, and subjective perceptions at rest and during 30 minutes of exercise.
This project is intended to determine the magnitude and duration of RMR changes in patients receiving orthopedic surgery. The result will help to guide postoperative nutrition recommendations in patients receiving orthopedic surgery.
To collect lab data from capillary and venous blood specimens for use in analytical research studies to support the development and validation of laboratory procedures.
The minimally processed diets of our ancestors have been rapidly replaced by UPFs driving poor diet to become the leading risk factor for preventable death globally. Hence, it is essential to understand what properties of UPF are driving their overconsumption to reduce diet-related mortality. To address this gap in knowledge this proposal will test: * If UPFs have a greater post meal metabolic response when compared to MPFs an essential signal for food reward * Through the use of an auction task paradigm if UPFs overvalued and if this value is differentially encoded in the brain This study is a fully cross-over design in that each participant receives all conditions and therefore serves as their own control. All orders of foods will be counterbalanced. Although participants cannot be blinded to the conditions as they must be aware of the foods they are eating, they will not be made aware that the key manipulation is food processing. On different days participants will come to the lab and consume a meal containing either minimally or ultra-processed foods as determined by the widely used NOVA (not an acronym) scale. These conditions will be consumed in a whole room metabolic chamber allowing for simultaneous measurement of multiple metabolic responses (glucose, insulin, and metabolic rate). These measures will be collected for 45 min before consumption of the meal (baseline) and for 3 hours after consumption (post-prandial). All participants will also undergo a Becker-Degroot-Marschak auction paradigm that consists of foods that are either minimally or Ultra-processed in the MRI scanner. Food value will be measure in participants' willingness to pay for each food and Neural responses will be measured during presentation of the food cues.
The purpose and objective of this study is to improve cholesterol treatment among blood donors with FH (Familial Hypercholesterolemia).
Background: Scientists have long used simple measures (such as height and weight) to estimate how much a person s body uses food (calories) as energy, as commonly called the metabolic rate. But metabolism varies among people with similar body sizes. Scientists now believe the old formulas for estimating metabolic rates may not work well for all people. Researchers want to find more accurate ways to measure a person s metabolism. Objective: This natural history study will examine the relationships between metabolism, body composition, and body surface area in a wide range of people. Eligibility: Healthy children and adults aged 2 years or older. Also, people aged 2 years or older with conditions that may alter metabolism. These may include diabetes, obesity, renal disease, or cancer. Design: Participants will spend 2 days and 1 night in the hospital. They will provide a medical history and answer questions about their activity levels, the foods they eat, and their lifestyle. They will also eat a special diet. Participants will undergo many tests: They will lie in a bed with a clear hood covering their head for 30 to 45 minutes to measure the gases in their breath. They will lie on a padded table for about 15 minutes while their body is scanned. They will stand on a platform while a 3D scanner measures their body. They will have a test to measure how fast an electric signal moves through their body. They will grip an instrument to measure the strength of their hands. They will drink salty water and provide blood and urine samples. Participants may be invited to return for these 2-day visits up to 8 times per year. Return visits must be at least 2 weeks apart.
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects. Objective: To learn how the caregiving process affects the health and well-being of caregivers over time. Eligibility: Adults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities. Design: Participants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years. Participants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support. Participants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life. Participants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving. Participants may give a blood sample each year they are in the study. ...
This study examines the association of variability in glucose values over a 10-day period with cognitive function and functional status among individuals with prediabetes, aged 50 or older.
Background: People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases. One of these diseases is called propionic acidemia (PA). People with PA can have problems with growth, learning heart, abdomen, and other organs. Researchers want to better understand how these problems happen. Objective: To learn more about propionic acidemia and the genes that might contribute to it. Eligibility: People at least 2 years old with PA who can travel to the clinic Some unaffected family members Design: Participants will have a 3 to 5-day hospital visit every year or every few years. Family members may have just 1 visit. During the family member visit, they may have: Medical history Physical exam Samples of blood and urine Questions about diet and a food diary Doctors and nurses may do additional studies: Samples of saliva, skin and stool Fluid from a gastronomy tube, if participants have one Dental and eye evaluations A kidney test - a small amount of dye will be injected and blood will be collected. Consultations with specialists A test of calories needed at rest. A clear plastic tent is placed over the participant to measure breathing. Stable isotope study. Participants will take a nonradioactive substance then blow into a bag. Photos taken of the face and body with underwear on Ultrasound of the abdomen Heart tests Hand x-ray Brain scan Participants may have other tests if study doctors recommend them. They will get the results of standard medical tests and genetic tests.
Background: - Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels. Depending on the condition being studied, both affected and nonaffected individuals may be asked to provide blood and other samples and may undergo tests to evaluate the heart, blood vessels and lung function. The testing is tailored to the individual and/or condition being studied. Nonaffected individuals may include relatives of affected individuals and healthy nonrelated volunteers. Objectives: - To study individuals who have or are at risk for cardiovascular diseases, and in some cases their unaffected relatives and healthy volunteers. Eligibility: - Individuals between 1 and 100 years of age. Participants may be healthy volunteers, individuals with cardiovascular diseases, or unaffected relatives of individuals with cardiovascular diseases. Design: * Participants will have some or all of the following tests, as directed by the study researchers: * Photography of the face and full body * Body measurements * Radiography, including chest or limb x-rays * Metabolic stress testing to study heart and muscle function * Echocardiography to study heart function * Magnetic resonance imaging (MRI) studies, including cardiovascular MRI, angiography, and contrast MRI, to study heart function and performance * Computed tomography (CT) angiogram to obtain images of the heart and lungs * Positron emission tomography (PET) imaging to study possible fat infiltration of the heart * Six-minute walk test to study heart, lung, and muscle function and performance * Vascular ultrasound to study blood vessel walls * Blood, tissue, and other specimens will be collected for research and testing, and will be taken either as part of the clinical study or during surgical procedures. * Follow-up studies may be performed under separate research protocols.
The hypothesis for this study is that a preparative regimen that maximizes host immunosuppression without myeloablation will be well tolerated and sufficient for engraftment of donor hematopoietic cells. It is also to determine major toxicities from these conditioning regimens, within the first 100 days after transplantation.
Diet is a key factor in managing health and individuals at risk of developing metabolic syndrome or other chronic diseases have the opportunity to use diet as a tool to improve their health. This can be complicated when considering the numerous variables that impact digestion and absorption of key health-promoting compounds in foods. One of these variables is the gut microbiome, a microbial community in the digestive tract that interacts with the foods we consume. The mechanisms the microbiome uses to interact with bioactive compounds in foods, like polyphenols, can modulate the health-promoting benefits of polyphenols. Polyphenols are secondary plant metabolites, commonly found in fruit, legumes, chocolate, coffee, and nuts among other foods that have been shown to improve cardiovascular and metabolic health, as well as reduce inflammation and oxidative stress.
Women with HIV have an increased risk of having a myocardial infarction (heart attack) as compared to women without HIV. One of the mechanisms underlying the increased risk of myocardial infarction among women with HIV may involve reduced ability to increase blood flow through large and small coronary arteries at times when increased flow of oxygen-carrying blood is needed. We are conducting a study randomizing women with HIV and either diabetes, chronic kidney disease, or both to health education alone or to health education plus referral to see either an Endocrinologist or a Nephrologist in a subspecialty clinic for consideration of treatment with medication in a class known as sodium glucose transporter 2 (SGLT2) inhibitors. SGLT2 inhibitors are clinically approved for use in patients with diabetes or chronic kidney disease but have been shown to be underutilized in people with HIV. One of our key analytic aims will be to test if SGLT2 inhibitor therapy results in improved blood flow through the large and small coronary arteries among women with HIV and either diabetes, chronic kidney disease, or both but who have no history of myocardial infarction. A second aim will be to test if subspecialty clinic referral (with or without SGLT2 inhibitor therapy prescription) results in improved blood flow through the large and small coronary arteries among the same group.
The investigators will conduct a pilot feasibility and efficacy trial of a newly developed family health communication tool (called Let's Get REAL) in increasing youth involvement in real-time stem cell transplant and cellular therapy decisions (SCTCT). The investigators will pilot the intervention among 24 youth and their parents, stratified by youth age (stratum 1, 8-12 years of age and stratum 2, 13-17 years of age).
The purpose of the study is to evaluate the efficacy of multiple human placental membrane products and Standard of Care (SOC) versus SOC alone in the management of nonhealing diabetic foot ulcers (DFUs) and venous leg ulcers (VLUs) over 12 weeks using a modified platform trial design.
The goal of this clinical trial pilot study is to test the feasibility, acceptability, and preliminary efficacy of a combined intervention strategy of 1) technology-supported financial navigation to address economic burden of disease and 2) peer support both to facilitate linkages to clinical care and community resources to address social risks and improve participants\' diabetes self-management. The main aims of this pilot study are: * To examine the feasibility and acceptability of technology-supported financial navigation and financial navigation with peer support * To examine trends in preliminary efficacy of technology-supported financial navigation and peer support versus financial navigation-alone on 1) A1c and blood pressure (primary outcomes), and 2) out-of-pocket costs, treatment-related financial stress, cost-related non-adherence behaviors, diabetes distress, diabetes self-care behaviors, and uptake of social care assistance (secondary outcomes). The investigators will assess whether a combined intervention of technology-supported financial navigation and peer support will produce trends in superior diabetes and social care outcomes to financial navigation alone via a 2-arm randomized controlled trial. Participants will * Complete 3 survey appointments at baseline, and 3 and 6 months. Each appointment will consist of a survey assessment, an HbA1C test, and two blood pressure readings over the phone. * Be randomized to either financial navigation only or financial navigation and peer support.
The purpose of the Cardiovascular and Metabolic Sciences Biorepository is to collect and store information and biospecimens (blood, urine, stool, and heart tissue) from patients with and without cardiovascular and metabolic diseases to create a readily available biorepository of samples and related medical health information to expedite future research into the causes and consequences of cardiovascular and metabolic diseases.
The aim of this study is to look at changes in diabetes-related risk factors in Black adolescent girls who are at risk for type 2 diabetes and their primary female caregiver after both participating in a 12-week in-person lifestyle program.
People who experience repeated bouts of circadian misalignment, such as shift workers, are at higher risk of cardiovascular disease (CVD) and Type 2 diabetes (T2D) compared to daytime workers. However, the mechanism(s) by which shift work and associated circadian misalignment increase CVD and T2D risk are unknown. This project will examine whether elevated plasma lipids are a mechanism by which circadian misalignment impairs vascular function, insulin sensitivity, glucose homeostasis and muscle lipid accumulation, which could be targeted to prevent and treat cardiometabolic disease in people who chronically experience circadian misalignment, which includes more than 20% of the US workforce.