20 Clinical Trials for Various Conditions
The specific aims of this study are (1) to determine the clinical phenotypes and natural history of hepatic RC and FAO disorders, (2) to determine the correlation between genotype and phenotype, (3) to determine if circulating biomarkers reflect diagnosis and predict liver disease progression and survival with the native liver, (4) to determine the clinical outcome of these disorders following liver transplantation, and (5) to develop a repository of serum, plasma, urine, tissue and DNA specimens that will be used in ancillary studies. To accomplish these aims, the ChiLDREN investigators at clinical sites (currently 15 sites) will prospectively collect defined data and specimens in a uniform fashion at fixed intervals in a relatively large number of subjects. Clinical information and DNA samples to be collected from subjects and their parents will enhance the potential for meaningful research in these disorders. A biobank of subject specimens and DNA samples will be established for use in ancillary studies to be performed in addition to this study.
The purpose of the study is to determine if an oral ketone beverage is safe and well-tolerated during moderate intensity exercise in participants with long-chain fatty acid oxidation disorders and if it will raise blood ketones to levels similar to that reported among normal healthy subjects.
The objectives of this study are to characterize the disease impact, the disease management and resource utilization, and provide benefits to the LC-FAOD community, by use of a convenient online platform for participants (or caregivers) to self-report information.
The primary objective of this study is to assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.
The purpose of the study is to collect information on disease characteristics from adult patients diagnosed with fatty acid oxidation disorders (FAOD).
The purpose of this Phase 1b study is to assess REN001 safety in subjects with fatty acid oxidation disorders.
The primary objective of the study is to evaluate the clinical outcomes for the trigger event of patients who receive triheptanoin in the emergency Investigational New Drug (eIND) program.
The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in participants with LC-FAOD. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in LC-FAOD and evaluate the impact of UX007 on clinical events associated with LC-FAOD.
The primary objective of the study was to evaluate the impact of UX007 on acute clinical pathophysiology associated with LC-FAOD following 24 weeks of treatment.
Humans eat long-chain fat in their diet and use it for energy during exercise and during periods of fasting. Patients with long-chain fatty acid oxidation disorders cannot use dietary fat for energy. They sometimes develop muscle breakdown, and severe pain with exercise or illness. They can also develop a heart that does not function properly. These patients are tired and expend less energy than people who do not have a long-chain fatty acid oxidation disorder. However, they can use a supplement oil called medium chain triglyceride or MCT. This study will determine if a new experimental oil called Triheptanoin can decrease the muscle pain and increase the heart function and the amount of energy in patients with long-chain fatty acid oxidation disorders. Funding source - FDA's OOPD
Several hormones involved in body weight regulation increase the subject's ability to burn fat for energy. The purpose of this study is to investigate how burning fat for energy may affect those hormones and body weight in children. The study will also determine if eating a diet higher in protein alters the amount of fat you burn and how these hormones control body weight.
The overall objective of the current proposal is to strengthen the putative link between FFA induced insulin resistance and atherosclerotic vascular disease (ASVD). To this end, the investigators will test the following hypotheses: 1) that FFA induced activation of protein kinase C βII (PKC β II) and δ and other serine kinases such as IκB kinase (IKK) in human muscle is associated with a decrease in insulin stimulated tyrosine phosphorylation of the insulin receptor substrate-1 (IRS-1) and of IRS-1 associated phosphatidylinositol 3 (PI3) kinase; 2) that these changes precede the development of insulin resistance; 3) that the decrease in IκB-α results in activation of nuclear factor κB (NFκB) and the expression of adhesion molecules and cytokines; 4) that PKC and IKK are involved in producing insulin resistance and activation of the IκB/ NFκB pathway and lastly 5) that the same mechanisms operative in healthy volunteers are also operative in patients with T2DM.The investigators will test these hypotheses in normal (current) and diabetic volunteers (previously completed) . Euglycemic-hyperinsulinemic clamps will be performed with and without co-infusion of lipid plus heparin (to raise FFAs) and by obtaining serial muscle and fat biopsies and blood samples will be obtained for measurement of substrates, hormones, enzymes and metabolites.
The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home. The main question it aims to answer is: • Will participants measure their ammonia every day? Participants will be asked to: * Attend three in-person study visits at the clinic. * Measure temperature, heart rate, and blood oxygen every day. * Complete a short survey every day. * Measure ammonia every day.
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed: Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder. Aim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).
Background: - People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby. Objectives: - To collect data from the medical records of women with an inborn error of metabolism. Also, to create a pregnancy registry of inborn errors of metabolism. Eligibility: * Women with an inborn error of metabolism who either: * have been pregnant in the past, * are currently pregnant, or * have recently talked with their doctor about becoming pregnant. Design: * This study will collect data only. No extra tests will be done. * Participants will be in the study for the length of their pregnancy and for 1 year after delivery. * Participants will answer questions about their family s health. * The participant s doctor will send their medical records to researchers. These may include data about: * Last health care visit before pregnancy * Blood, urine, ultrasound, or lab results during pregnancy * Delivery and recovery after delivery * Researchers will ask for the test(s) used to confirm pregnancy. * After the participant has her baby, researchers will ask for data about how the baby is doing. This may include when the baby is sitting, walking, talking, etc. * The data will be placed into a database. The database will not include the participant s name or identifying data.
This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement. It will also allow triheptanoin supplementation in patients with qualifying disorders if they are failing conventional therapy.
Background: - Non-alcoholic fatty liver disease (NAFLD) is a common cause of abnormal liver tests. It is closely linked to health problems like obesity and diabetes. Researchers want to use a breath test to measure the metabolism of fatty acids and learn more about the causes of disease. They will compare the results between people who do and do not have NAFLD. They will also repeat the test in people with NAFLD after treatment to see improvement. Objectives: - To measure the metabolism of fatty acids and compare them between people who do and do not have NAFLD, and people with NAFLD before and after treatment. Eligibility: * People age 21 and older with NAFLD * Healthy volunteers * non-NAFLD metabolic syndrome Design: * Participants will be screened with medical history, physical exam, and fasting blood tests. * Participants will fast overnight. * Participants will sit in a comfortable chair. They will relax for 15 minutes. Then a narrow plastic tube will be put under their nostrils. It will be connected to a breath test device. * Participants will drink palmitate or acetate in a heated liquid meal (Ensure). Palmitate is a fatty acid and acetate is a small molecule that is a building block for fatty acids. Both palmitate and acetate are natural compounds that are in our body and our food. * Participants will sit for 6 hours. They can read, watch television, work on a computer, or other relaxed activity. The air they breathe out from their nose will be collected and analyzed. They may take a bathroom break after 3 hours. They may drink water after 3 hours. * Participants will get a meal after the test. * Participants will have another visit at least 1 week later. They will repeat the test with the other compound (acetate of palmitate). * Participants may be asked to repeat a test to study the result of a change like weight loss or medicine. Thus, participation can last from 1 week to several years.
There is a significant proportion of patients complaining of muscle symptoms while on statin therapy who have a measurable difference in muscle strength or endurance and whose muscle biopsies are diagnostic for myopathy.
The purpose of this study is to better understand the different ways our bodies burn fat which may be important for obesity, diabetes, and cardiovascular disease.
Nonalcoholic steatohepatitis (NASH) is the aggressive form of nonalcoholic fatty liver disease, which is rapidly becoming a worldwide public health problem. It is more common in the military and Veteran population compared to the general US population. NASH may progress to end-stage liver disease and primary liver cancer, and hence there is critical need for effective treatment. The goal of this clinical trial is to test whether low dose thyroid hormone administered to Veterans diagnosed with NASH can be an effective therapy mediated by improvement in breaking down fat in the mitochondria. The study will be conducted in two stages, the first stage is for proof of concept to be followed by interim analysis. If the interim analysis supports the merit for continuing the study, the clinical trial will proceed to stage 2 for continuation. This study will provide new information and strategies for treatment of NASH using low dose thyroid hormone that will be highly relevant and impactful to the health of the Veteran population.