View clinical trials related to Metabolic Diseases.
Filter by:Background: Patients with the sugar metabolism disorder, Glycogen Storage Disease Type V, have insufficient breakdown of sugar stored as, glycogen, within the cells. The investigators know from previous studies with McArdle patients, that they not only have a reduced sugar metabolism, both also have problems in increasing their fat metabolism during exercise to fully compensate for the energy deficiency. Studies on Triheptanoin diet used in patients with other metabolic diseases have shown that Triheptanoin can increase metabolism of both fat and sugar. In these patients, Triheptanoin has had a positive effect on the physical performance and has reduces the level of symptoms experienced by patients. Aim: To investigate the effect of treatment with the dietary oil, Triheptanoin, in patients with McArdle disease on exercise capacity. Methods: 20-30 adult patients will be recruited through Rigshospitalet in Copenhagen, Denmark, Hopital Pitié-Sapêtrière in Paris, France and through The University of Texas Southwestern Medical Center in Dallas, Texas. 1. Pre-experimental testing (1 day): Baseline blood samples are collected to obtain baseline values of safety parameters: Plasma-acylcarnitines, free fatty acids and creatine kinase. Subjects perform a max-test to determine their VO2max 2. Treatment period #1 (2 weeks): Subjects follow a diet consuming a dietary treatment oil. Neither patients nor members of the study group know who receive which type of oil. 3. Washout period (1 week): Subjects receive no treatment 4. Treatment period #2 (2 weeks): Subjects who received Triheptanoin oil in the first treatment period, now receive placebo oil and vice versa. Assessments: Before and after each treatment periods, subjects perform a 30-minutes exercise test on a cycle ergometer, comprising of 20-22 minutes of constant load exercise and 6-8 minutes increasing load to peak. Subjects will complete a Fatigue Severity Scale questionnaire and metabolic products will be measured in blood and urine.
The aim of this feasibility study is to test recruitment of participants into Phase 1 of the study and then the re-recruitment and retention of participants in Phase 2 of the study. The investigators will also be assessing the acceptability of recruitment strategy and data collection to participants. The effect of pre-pregnancy factors (biophysical, genetic, socioeconomic, behavioural and psychological) on obstetric, cardiovascular, socioeconomic, behavioural and psychological outcomes will all be examined.
This 6-week parallel randomised prospective dietary intervention study with type 2 Diabetes investigates the nutrition influence of animal protein in comparison to plant protein on the glucose metabolism.
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
This study aims to find out how consuming different proteins with rice affect metabolism. Most meals the investigators eat predominantly consist of a carbohydrate and protein (i.e. rice, noodles, bread etc with meats or seafood). However, it is still unknown how consuming different proteins with commonly eaten carbohydrates affect metabolism. Previous studies have shown that proteins stimulate hormones such as insulin, glucagon and gut hormones. However, the extent of the response depends on protein type. The metabolic responses to carbohydrates have also been shown to be greatly affected when they are eaten with proteins. However, most of the previous studies have used glucose as the carbohydrate and it is still unknown how eating proteins with carbohydrate foods such as rice affect metabolism. Therefore, this study has been initiated to determine the metabolic effects of eating different protein types with rice. Using the most common carbohydrate eaten in Asia (rice) and four commonly eaten protein foods (egg, chicken, fish and beancurd), this study aims to observe the metabolic effects of co-ingesting proteins and carbohydrate. The resulting data will provide valuable insights into the metabolic effects of protein-carbohydrate meals and will be useful in the development of practical advice and dietary guidelines for those with chronic diseases (such as diabetes and obesity).
Cholesteryl Ester Storage Disease (CESD) is an autosomal recessive lysosomal storage disorder (LSD) caused by mutations in the lysosomal acid lipase gene (LIPA) that markedly reduce lysosomal acid lipase (LAL) activity, leading to the accumulation of lipids, predominately cholesteryl esters and triglycerides, in various tissues and cell types. In the liver, accumulation of lipids leads to diffuse microvesicular steatosis, which progresses to fibrosis and ultimately, to micronodular cirrhosis. Patients typically present with hepatomegaly, liver dysfunction, hepatic failure and type II hyperlipidemia. Although hepatosteatosis is a typical finding, the liver biopsy diagnosis may be misclassified as non-alcoholic fatty liver disease, non-alcoholic steatohepatitis or cryptogenic liver disease. Biopsy and radiological findings are not considered diagnostic, but help to suspicion of CESD. The definitive diagnosis is based on deficient LAL activity and/or LIPA gene mutations. CESD is pan-ethnic, however, the disease incidence is unknown. The estimated incidence of the disease indicates that CESD should be largely underdiagnosed especially in European patients. Elevation of serum transaminases, and hepatomegaly are early indications of liver impairment. Therefore, CESD should be considered as a differential diagnosis in liver disease of unknown origin. To data, there is no study which evaluated the frequency of CESD in children with unexplained transaminase elevation and/or organomegaly and/or chronic liver disease. The aim of this prospective, multicenter and cross-sectional study is to investigate frequency of CESD in children with unexplained transaminase elevation and/or and/or chronic liver disease and to identify demographic and clinical features of CESD.
This study examines the effects of individualized diet and exercise plans on muscle strength, quality of life and respiratory function in Pompe disease. Subjects will be given a diet and exercise plan based on their individual needs, which will be followed for 16 weeks. Participants will also be provided with an activity tracker in order to track their exercise activities, access to an app that will allow them to input their daily food intake, and they will also come to the University of Florida for exercise tests, respiratory tests and questionnaires.
The purpose of this study is to describe the safety profile of ProHema-CB as part of a single cord blood unit transplant after a myeloablative conditioning regimen in pediatric patients with inherited metabolic disorders. The safety profile will primarily be assessed by neutrophil engraftment.
This open label study seeks to study the effects of a nutritional supplement on inflammatory markers, metabolic parameters, and safety in subjects compared to baseline after taking supplement for 2 and 4 months.
Glycogen storage disease (GSD) patients frequently experience periods of hypoglycemia, putting them at risk for several complications, such as hepatomegaly, adenomas, and cirrhosis. As of now, glycogen storage disease patients are limited to using finger stick glucose meters to monitor their glycemia at home. Diabetes Sentry, a non-invasive hypoglycemia detector designed like a watch, has been available for diabetic patients to non-invasively alert for hypoglycemia, but has never been tested in a GSD population. The investigators propose to test the accuracy of the Diabetes Sentry on patients with GSD types 0, I, III, VI, and IX, by measuring their metabolic markers every two hours, as well as whenever the device alerts for hypoglycemia. If accurate, it could be a useful tool for GSD patients in managing hypoglycemia, both clinically and at home.