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Clinical Research Directory

Browse clinical research sites, groups, and studies.

4 clinical studies listed.

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Urea Cycle Disorder

Tundra lists 4 Urea Cycle Disorder clinical trials. Each listing includes eligibility criteria, study locations, and direct links to research sites in the Tundra directory.

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RECRUITING

NCT04908319

Hepatic Histopathology in Urea Cycle Disorders

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.

Gender: All

Updated: 2025-07-20

2 states

Urea Cycle Disorder
Ornithine Transcarbamylase Deficiency
Citrullinemia 1
+7
RECRUITING

NCT04612764

Liver Disease in Urea Cycle Disorders

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.

Gender: All

Ages: 6 Years - 65 Years

Updated: 2025-04-17

5 states

Urea Cycle Disorder
Ornithine Transcarbamylase Deficiency
Citrullinemia 1
+5
NOT YET RECRUITING

NCT06664840

MyRareDiet A Novel Diet Tracking Tool

The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to treatment guidelines, while facilitating the collection of dietary data from individuals with IEM for research purposes.

Gender: All

Ages: 1 Year - 80 Years

Updated: 2024-10-30

Urea Cycle Disorder
Propionic Aciduria
Maple Syrup Urine Disease
+1
RECRUITING

NCT04602325

Systemic Biomarkers of Brain Injury From Hyperammonemia

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).

Gender: All

Ages: 7 Years - 18 Years

Updated: 2024-02-07

1 state

Urea Cycle Disorder
Organic Acidemia
Maple Syrup Urine Disease
+3