View clinical trials related to Glycogen Storage Disease Type I.
Filter by:Empagliflozin Treatment of GSD-1b patients
The primary objectives of this study are to evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy to maintain euglycemia and to maintain or improve the quality of glucose control.
Treatment of neutropenia of Glycogenosis type 1b patients with empagliflozin
The primary objective of this study is to assess the percentage of time patients were in normal glucose control.
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
Treatment of neutropenia of G6PC3 and Glycogenosis type 1b patients with empagliflozin
The primary objective of this study is to determine the long-term safety of DTX401 following a single intravenous (IV) dose in adults with GSDIa.
Hepatic Glycogen Storage Diseases are a group of 10 serious genetic diseases that present in childhood and are characterized more frequently by the occurrence of repetitive hypoglycemia and dyslipidemia. Regarding treatment, the most commonly used strategy is the frequent administration of uncooked cornstarch, in average, every 4 hours. Although this treatment is successful, the use of large amounts of cornstarch can lead to overweight and, especially, to the decrease in the quality of life of patients and caregivers, due to the need to use the starch during the night. The search for a treatment that is widely available and that can lead to the prolongation of the fasting time, can collaborate to improve the care of these patients. The main scientific question to be answered by this research is: does sweet manioc starch, a Brazilian product, safely prolong the fasting time (with normoglycemia) of the patients as already suggested in experimental models? Main objective: To evaluate the efficacy and safety of the use of uncooked Sweet Manioc Starch in the treatment of patients with hepatic Glycogen Storage Diseases, using as model the Glycogen Storage Diseases type Ia.
This study will be an open-label, prospective, interventional feasibility pilot project to study the efficacy, safety, and tolerability of UX007 (triheptanoin) on reducing hypoglycemic events in patients with GSD I. Subjects will serve as their own control. Five (5) subjects who are treatment naïve to UX007 (triheptanoin) and are already on standard dietary therapy for GSDI will be enrolled. The primary objective is to evaluate the efficacy, safety, and tolerability of UX007 (triheptanoin) in patients with GSD I. The secondary objectives include evaluating the effect of UX007 (triheptanoin) on maintaining the duration of normoglycemia between meals based on glucose monitoring (Preventing and reducing the frequency of hypoglycemia); reduction/stabilization of the dose of cornstarch; and the prevention of increased liver steatosis based on ultrasound with elastography.
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.