Active clinical trials for "Carbohydrate Metabolism, Inborn Errors"

This is a Phase 4, U.S. only, multi-center study using a 7-day therapeutic response dose (TRD) of commercial Sucraid® to assess the response of treatment in 1100 symptomatic pediatric (6 months to 17 years old) subjects with low, moderate, and normal sucrase activity determined by a disaccharidase assay via EGD within 1 year of the Screening Visit. This study will also explore the relationship between known genetic CSID mutations and sucrase activities via (EGD) disaccharidase assay (low, moderate, and normal).

In this project we want to assess impact of dietary fructose as a simple sugar intolerance on abdominal pain and compare a low FODMAP diet versus an added sugar elimination diet effectiveness on symptoms but also impact on microbiome and its metabolome.

Irritable bowel syndrome (IBS) is a functional disorder causing troublesome symptoms and reduced quality of life. It affects 10-20% of the population, hence creates large costs for society. About 30-40% of all IBS patients do not benefit from current treatment options. Sucrase-isomaltase (SI) deficiency is an unexplored condition, that may explain symptoms in IBS patients who experience no effect from today's treatments. Currently, a duodenal biopsy is the gold standard for the diagnosis of SI deficiency, however the condition is not well investigated. A 13C-labelled breath test holds promise as a non-invasive alternative, but it has not previously been validated. This project will address the knowledge gap related to a possible association between SI deficiency and IBS by addressing two research questions that have never been answered before. We aim to: Validate the 13C-labelled breath test as a diagnostic tool by assessing the strength of the association between the breath test and SI activity measured in duodenal biopsies Use the 13C-labelled breath test in a randomized dietary crossover trial comparing a starch and sucrose reduced diet (SSRD) with the standard low-FODMAP diet in IBS patients, to evaluate whether SI activity is associated with dietary changes according to symptom severity and gut microbiota composition

The goal is to develop methodology to monitor flux in the citric acid cycle in brain via 13C nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla.

The purpose of this protocol is to create a registry for patients diagnosed with Glucose Transporter Type 1 Deficiency (G1D), or patients experiencing symptoms consistent with G1D but not yet diagnosed, to enter medical information for physicians and other health researchers to analyze to increase the understanding of G1D and any sub-diagnoses.

The primary objective of the study is to evaluate the long-term safety of UX007 in Glut1 DS participants.

The primary objective of the study was to evaluate the efficacy and safety of UX007 in the treatment of disabling paroxysmal movement disorders associated with Glut1 DS.

This study is being done to assess the safety and long-term efficacy of triheptanoin in pediatric patients with Glut1 DS over a 5-year treatment period. Glut 1 is a protein that helps transport glucose to the brain. Glucose is the brain's primary source of energy. Glut 1 DS prevents this protein from being effectively produced, causing deprivation of energy to the neurons of the of the brain. Glut1 DS is a severely debilitating disease characterized by seizures, developmental delay and movement disorder. There are currently no approved treatments specific to Glut1 DS. Treatment generally includes medications for control of seizures. The use of a ketogenic diet can be effective in controlling seizures when medications are ineffective or provide insufficient control. However, the ketogenic diet may be very difficult for patients to maintain for long periods of time, and there may be negative secondary long-term effects of ketogenic diet.. Triheptanoin is metabolized to molecules that can provide an alternative energy source to the brain, and appears to help in controlling seizures without many of the difficulties of the ketogenic diet. Eligible patients may be those who have been diagnosed with GLUT1 DS, and have discontinued or are not currently on ketogenic diet, or are able to tolerate triheptanoin if they have been treated or are currently being treated with triheptanoin and do not qualify for any other clinical trial.

The primary objectives of the study are to evaluate the efficacy of UX007 compared to placebo as measured by the reduction from randomization to Week 8 in frequency of seizures and to evaluate the safety of UX007 via adverse event (AE) rates, laboratory values, and electrocardiogram (ECG).

The purpose of this study is to evaluate the validity of using a carbohydrate intolerance questionnaire (CIQ) and/or other health markers as a means of predicting response to insulin sensitivity as determined by an oral glucose tolerance test (OGTT).