View clinical trials related to Glycogen Storage Disease.
Filter by:Collection and review of clinical information related to glycogen branching enzyme (GBE) deficiency, diagnosed as Glycogen Storage Disease Type IV (GSD IV) or Adult Polyglucosan Body Disease (APBD generated during clinic visits.
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
Patients suffering from the metabolic myopathy Glycogen Storage Disease type IIIa (GSDIIIa) have a problem releasing sugar stored in cells that is needed for energy production. This causes several systemic impairments, but only recently have the exercise-related symptoms in the muscles been examined. A previous study showed signs that intravenous infusion of glucose relieves some of these symptoms. The purpose of this study is to investigate in a randomized and placebo-controlled fashion whether oral ingestion of sugar can alleviate muscular symptoms in patients with GSDIIIa.
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.
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 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.
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.
To compare efficacy of Glycosade® with uncooked corn starch (UCCS for the dietary management of hepatic glycogen storage diseases (GSD).
The objective of this demonstration project is to compare a novel long-acting starch, Glycosade, a hydrothermally processed high amylopectin maize starch, versus gastrostomy tube-dextrose infusion in maintaining euglycaemia overnight in children with GSD-I. Glycosade has been reported to increase the duration of euglycaemia. Its slow release and longer periods of normal blood sugar achieved would preclude the need for the overnight dextrose infusion and eliminate the need for the surgical insertion of a gastrostomy tube for this purpose. Glycosade also reportedly causes fewer gastrointestinal side effects, thus potentially improving compliance to therapy. The investigators intend to evaluate Glycosade in our patients and determine its efficacy on glucose control, on the length of normoglycemia achieved and to determine if there are reduced side effects in our patients with GSD-I. This will be accomplished by an open label study of Glycosade in GSD-I patients who consent to the protocol.
The purpose of the study is to determine whether carrier status for any type of glycogen storage disease (GSD) predisposes the carrier to GSD markers, like high cholesterol, by testing blood, urine, and saliva samples.