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Urea Cycle Disorder clinical trials

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NCT ID: NCT05706714 Completed - Urea Cycle Disorder Clinical Trials

Th1, Th2, Th17 Phenotype in Urea Cycle Disorders

Start date: April 6, 2021
Phase:
Study type: Observational

Infection-related hyperammonemia in patients with urea cycle disorders is an important cause of morbidity and mortality. The relationship between immune system cells and the metabolic pathways used by these cells and inborn errors of metabolism is still under investigation. Current studies are generally based on experiments in mice. The investigators' goal is to study specific T cell subsets to understand the effects of the urea cycle on T cells. The investigators collected blood samples from participants with lysinuric protein intolerance and urea cycle disorders for basic immunophenotyping, lymphocyte proliferation in response to phytohemagglutinin and CDmix, and cytokine analysis involving Th1, Th2, and Th17 and compared them with age-matched healthy controls. They also examined amino acid profiles in sera and supernatants before and after stimulation with PMA-ionomycin.

NCT ID: NCT05330039 Completed - Clinical trials for Inborn Errors of Metabolism

Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)

IEM
Start date: November 30, 2021
Phase:
Study type: Observational

Study around children with inborn errors of metabolism (IEM) and their healthy siblings. Collection of stool and urine to assess contribution of microbiota to disease severity.

NCT ID: NCT05076318 Recruiting - Uremia Clinical Trials

Dysregulated Urea-synthesis at Terminal Uremia

Start date: March 1, 2021
Phase: N/A
Study type: Interventional

This project will examine the dysregulation of the urea cycle in patients with terminal uremia using a validated method named "Functional Hepatic Nitrogen Clearance"

NCT ID: NCT04908319 Recruiting - Urea Cycle Disorder Clinical Trials

Hepatic Histopathology in Urea Cycle Disorders

Start date: February 24, 2022
Phase:
Study type: Observational

This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis. This study will be conducted at all Urea Cycle Disorders Consortium (UCDC) sites: Baylor College of Medicine in Houston, TX and Children's National Medical Center in Washington D.C.

NCT ID: NCT04612764 Recruiting - Urea Cycle Disorder Clinical Trials

Liver Disease in Urea Cycle Disorders

Start date: November 4, 2021
Phase:
Study type: Observational

This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE. This study will be conducted at 5 sites of the Urea Cycle Disorders Consortium: Baylor College of Medicine in Houston, TX, Seattle Children's Hospital in Seattle, WA, Children's Hospital Colorado in Aurora, CO, Children's Hospital of Philadelphia in Philadelphia, PA, and Children's National Medical Center in Washington D.C.

NCT ID: NCT04602325 Recruiting - Clinical trials for Hypoxic-Ischemic Encephalopathy

Systemic Biomarkers of Brain Injury From Hyperammonemia

Start date: July 9, 2020
Phase:
Study type: Observational

Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed: Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder. Aim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).

NCT ID: NCT04248062 Completed - Phenylketonurias Clinical Trials

Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism

MetaPROM
Start date: August 1, 2019
Phase:
Study type: Observational

lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting in a limited body of evidence. Limited evidence results in weak recommendations which are perceived as unbinding and thus sustains heterogeneous study designs, choice of outcomes and interventions again producing non-uniform data. The goal of the current study is to identify and select reliable instruments, that measure patients' and their parents' perception about relevant (social, emotional, cognitive and physical) aspects in their lives. This set of instruments will secure the comparability of future research findings. Furthermore this instruments will improve the screening of paediatric IEM patients regarding their need for additional (psychosocial or consultative) support in daily hospital routine.

NCT ID: NCT03933410 Terminated - Urea Cycle Disorder Clinical Trials

UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder

UNLOCKED
Start date: September 17, 2019
Phase: Phase 2
Study type: Interventional

UNLOCKED: A Phase 2 Trial to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care

NCT ID: NCT03911089 Completed - Clinical trials for Inborn Errors of Metabolism

A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD

Start date: May 28, 2013
Phase: N/A
Study type: Interventional

Original study: Study aims to enroll 3-5 children with confirmed Urinary Cycle Disorder (UCD). Subjects meeting the inclusion and exclusion criteria are included during the baseline visit. All subjects will receive the investigational product for a period of 16 weeks. At baseline, 2, 4, 8, 12 and 16 weeks the study parameters are assessed. The study amendment aims to collect case studies retrospectively of children who have used UCD Anamix Infant for at least 16 weeks, in countries where UCD Anamix Infant is already available on the market. It is aimed to collect the same study parameters of the original study at preferably the same timepoints.

NCT ID: NCT03884959 Withdrawn - Urea Cycle Disorder Clinical Trials

A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients

Start date: July 12, 2018
Phase: Phase 2
Study type: Interventional

This is a phase2, prospective, open label study designed to investigate the safety and efficacy of several infusions of HepaStem. This study will include 5 pediatric Urea Cycle Disorder (UCD) patients under 12 years old. Its assessment includes all safety parameters and an efficacy assessment based on 13C tracer tests, ammonia, medication and diet changes. HepaStem will be administered in addition to the conventional UCD treatments.