Active clinical trials for "Glycogen Storage Disease Type III"

The aim of this study is to investigate the effect of 14 days of treatment with the dietary oil-supplement Triheptanoin on fat metabolism and exercise tolerance in patients with Phosphofructokinase deficiency, Debrancher deficiency and Glycogenin-1 deficiency. The investigators wish to investigate whether a Triheptanoin diet can improve exercise capacity by measuring: Heart rate during cycling exercise and maximal exercise capacity Fat and glucose metabolism Concentrations of metabolic substrates in blood during exercise Perception of fatigue and symptoms by questionnaire Degree of exhaustion during cycling exercise by Borg score All measurements are done before and after 14 days with a Triheptanoin-oil diet, and before and after 14 days diet with safflower (Placebo-oil). Triheptanoin-oil supplementation in the diet has been shown to increase metabolism of both fat and carbohydrates in patients with other metabolic myopathies. In these patients, Triheptanoin improved physical performance and has reduced the amount of symptoms experienced by patients.

The primary objective of the study is to evaluate the safety of UX053 in adults with Glycogen Storage Disease Type III (GSD III).

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.

The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric participants with glycogen storage disease type III (GSD III).

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.

The primary objective of this study is to evaluate potential biomarkers of GSD III.

The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients, and using the same protocol for the follow up of the children and adults.

The aim of the present study is to determine if there is a change in quality and quantity of sleep perceived by adults and children with GSD and their parents while starting a modified UCCS (Glycosade) to prevent nocturnal hypoglycemia. The investigators also aim to evaluate if there is a change in quality of life perceived by adults and children and their parents with Glycosade.

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.