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Primary hyperoxalate deficion, an abnormal body's excessive production of oxalate results in frequent kidney stones and kidney function loss. Subjects will either ingest or have an intravenous infusion of carbon 13 glycolate, a stable isotope of glycolate that can be tracked and will also identify downstream metabolic products, depending on a controlled diet. To get a realistic picture of how much oxalate is made from normal glycolate breakdown in healthy human subjects, blood and urine samples will be tested for labeled glycolate and labeled oxalate.
Source link: https://clinicaltrials.gov/ct2/show/NCT04437225
The overarching goal is to complete a prospective assessment of energy use in the new infant metabolic chamber about a week apart to determine the accuracy and reliability of infant protocols related to energy metabolism and physical fitness. What is the slew of 24h energy expenditures incurred by the infant metabolic chamber in comparison to a 7-day doubly labeled water study?
Source link: https://clinicaltrials.gov/ct2/show/NCT02683473
Investigators have reported that GSH deficiency contributes to mitochondrial dysfunction and oxidative stress, and that GSH deficiency can be reduced by supplementing its precursors, glycine and cysteine, as a result of the combination GlyNAC. This randomized clinical trial will determine the effects of GlyNAC vs. alanine placebo supplementation for 24-weeks to patients with AD and investigate changes in cognition, GSH concentrations, brain glucose uptake, and insulin resistance will reveal findings in cognition, GSH concentrations, brain glucose uptake, brain inflammation, and insulin resistance.
Source link: https://clinicaltrials.gov/ct2/show/NCT04740580
Non-alcoholic fatty liver disease is the most common hepatic disease in the Western world and is a leading cause of liver-related morbidity and mortality in the Western world. The intricate metabolic pathways connecting nutrient intake and hepatic fat accumulation have yet to be fully understood, with excess caloric intake and specific nutritional factors implicated in its pathogenesis. By using a metabolomics-based dynamic approach, we suggest a pilot study to investigate the metabolic responses of patients with NAFLD to a standardized food challenge. In this study, we will enroll up to 50 patients with NAFLD and compare them to 12 controls with metabolic syndrome without NAFLD and 12 healthy controls. Following an overnight fast, participants will be placed in a metabolic chamber for continuous monitoring of metabolic levels, and will be given a liquid mixed meal with approximately 30% of daily caloric intake over a period of 15 minutes.
Source link: https://clinicaltrials.gov/ct2/show/NCT02520609
Due to advancements in early diagnosis and improved pediatric care, women with inherited metabolic disorders are reaching child bearing age more often. The most evidence on the effects of underlying inborn error of metabolism in pregnancy stems from the study of phenylketonuria. Key management issues were identified from the knowledge gained by the gathering of data from many instances of pregnancy affected by PKU. For example, children born to mothers on unrestricted diet were considerably more likely to experience intellectual impairment, microcephaly, and low birth weights than women who maintained a phenylalanine restricted diet. The excess phenylalanine in women with PKU desiring pregnancy has long-term health consequences to the developing fetus, but a more cautious diet is now considered as mandatory in women with PKU desiring pregnancy. For example, nine published cases of methylmalonic academia in pregnancy and one case of cobalamin C deficiency in pregnancy have been identified, and research papers have reported the same cases. The paucity of pregnancy studies in metabolic disorders other than PKU may be due to a lack of structured study to address pregnancy management in metabolic disorders. The aim of this research is to establish a pregnancy registry of women with nephrotropic deficiencies of metabolism other than PKU. This research will also look at reproductive topics, including infertility and the use of artificial reproductive technologies. Our registry information would also be used to disseminate management experience for all providers, acknowledging that individual centers do not have the expertise or expertise to make effective management decisions on their own.
Source link: https://clinicaltrials.gov/ct2/show/NCT02322177
The ketogenic diet is a high-fat, very low carbohydrate diet that promotes a variety of changes in the body's chemical reactions that are associated with reduced frequency and severity of seizures in patients with epilepsy. Patients with epilepsy are particularly affected by stigmatization, challenges with career, and physical limitations. There are some evidence that the KD may have beneficial effects on QoL in patients with epilepsy, and this can be investigated by changes in body energy expenditures. In the scientific literature, there are currently no studies that link changes in body energy requirements, body composition, and biochemical tests with seizures and QoL. The primary aim of this research is to investigate the effect of the KD on changes in the frequency and severity of seizures, QoL, energy substrate metabolism, body energy expenditure components, fat mass, and fat-free mass in adults with epilepsy. The evaluation of total daily energy consumption and body composition will be determined by stable isotope compounds. The resting energy consumption and respiratory quotient for energy substrate oxidation will be determined by indirect calorimetry. QoL's physical fitness status, which can be determined by a ratio between TDEE and REE, as well as the wearing of a physical activity monitor, will be used as a predictor of QoL. The hypothesis is that KD therapy promotes differences in energy metabolism and energy substrate oxidation, which can lead to improved epilepsy control, reduced incidence and severity of seizures, as well as improved patient QoL.
Source link: https://clinicaltrials.gov/ct2/show/NCT04546711
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