Glycogen Storage Disease Breath Test Study
Patient ComplianceHealthyGlycogen storage disease type I (GSD I) caused by deficiency of glucose-6-phosphatase enzyme leading to build up of a complex sugar called glycogen in liver and low blood glucose level. Nutritional treatment involves supplying carbohydrates and uncooked cornstarch. Glycosade® (modified cornstarch) has shown promise in maintaining normal blood glucose level in GSD I. But the difficulty in nutritional treatment is determining the best type of carbohydrate to be given to avoid low blood glucose. Thus, there is a need to develop a simple test to examine glucose digestion and measure the utilization of different carbohydrates in GSD I and healthy controls.
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
MetabolismInborn Errors24 moreThis 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.
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
Glycogen Storage Disease Type 2Dystrophia MyotonicaThe aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders. Muscle quality in patients with Late Onset Pompe Disease (Acid Maltase Deficiency type 2) and in patients with Myotonica Dystrophy will be evaluated, by determining muscle strength in relation to muscle size and muscle strength in relations to fat-muscle ratio.
Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Glycogen Storage Disease Type IITo investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.
Alglucosidase Alfa Temporary Access Program
Glycogen Storage Disease Type II (GSD-II)Pompe Disease (Late-Onset)2 morePompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The objective of this expanded access study is to provide patients with Pompe disease in the United States (US), access to alglucosidase alfa produced from a scaled up manufacturing process for a limited time until production at this scale is approved for commercial use by the Food and Drug Administration.
Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease...
Glycogen Storage Disease Type IIGlycogenosis 2Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The objective of this protocol is to provide enzyme replacement therapy with rhGAA on an expanded access basis, to severely affected patients with infantile-onset Pompe disease for whom there is no alternative treatment and who do not meet the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored study currently enrolling patients with infantile-onset Pompe disease.