Active clinical trials for "Glycogen Storage Disease"

Glycogen storage disease type Ia (GSDIa) subjects retain a limited capacity for endogenous glucose production (EGP). To date, the origin of residual EGP in GSDIa patients is unknown. Either increased glycogen debranching or lysosomal glycogen breakdown can account for residual EGP in GSDIa. Innovative treatments for GSDIa (e.g. AAV8-mediated gene therapy and mRNA therapy) are being developed.Therefore, longitudinal minimally-invasive monitoring of outcomes after therapeutic interventions in GSD Ia subjects becomes warranted. The primary objective is to test the feasibility of EGP quantification in adult GSDIa subjects by stable isotopes after a single oral [6,6-2H2]glucose dose. Secondary objectives are to compare EGP assessed by a single oral [6,6-2H2]glucose dose (a) in GSDIa patients versus matched healthy participants, (b) among GSDIa patients, (c) in the pre-prandial state versus the fed state, (d) in the controlled hospital setting versus the home setting. Data collected from the continuous glucose monitoring data will also be compared

The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease. The study will last 1 or 2 visits which will include a blood collection, urine collection, and two skin biopsies. Information will also be collected from the medical records about disease history and diagnosis. Patients will not receive any study medication.

The primary objective of this study was to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in participants who had a confirmed diagnosis of Pompe disease. A secondary objective of this study was to evaluate and explore the relationship between anti-recombinant human acid alpha-glucosidase antibody titers and the PK of alglucosidase alfa.

The primary objective of this study is to assess the percentage of time patients were in normal glucose control.

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.

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 purpose of this study is to: Document the developmental outcomes of individuals with Pompe disease treated with long-term enzyme-replacement therapy (ERT) through school-age (ages 6-18) using measures of cognitive functioning, academic skills, and speech and language abilities. Investigate possible cognitive processing speed weaknesses using BrainBaseline neurocognitive assessment software. Investigate the relationship between behavior and other developmental factors including speech and language ability and cognitive ability. Explore if the use of selected iPad applications may help strengthen cognitive processing speed in children with Pompe disease

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

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.