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Urea Cycle Disorder clinical trials

View clinical trials related to Urea Cycle Disorder.

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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).