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arginase-deficiency Clinical Trials

A listing of arginase-deficiency medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

Found 6 clinical trials
P Pierachille Santus, PhD

Improving Quality of Life and Daily Life Activities With Bioarginine in Patients With COPD

Different studies have suggested that COPD is associated with elevated alveolar NO and increased expression of NOS2 in alveolar walls, small airway epithelium and vascular smooth muscle. Furthermore, arginase activity in COPD is shown to correlate inversely with total NO metabolite in sputum and with pre- and post- bronchodilator FEV1; …

40 - 100 years of age Both Phase N/A
Z Zhanna T. Zhusupova, MD

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests. IEM most commonly manifest in early infancy and childhood. Despite the fact that most IEM are rare in the population, they …

1 - 18 years of age Both Phase N/A
L Laurent Servais, MD, PhD

Baby Detect : Genomic Newborn Screening

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of …

- 28 years of age Both Phase N/A
C CoRDS Team

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures …

- 100 years of age Both Phase N/A
K Kara Simpson, MS, CGC

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 …

6 - 65 years of age Both Phase N/A
S Saima Ali

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 …

- 100 years of age Both Phase N/A

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