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Completed

NCT Number: NCT05706714

Th1, Th2, Th17 Phenotype in Urea Cycle Disorders

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.

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Key information

Conditions

Urea Cycle Disorder Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lysinuric Protein Intolerance Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Urea Cycle Disorders, Inborn

Age range

Up to 53 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Istanbul University-Cerrahpasa

Istanbul, 34098, Turkey (Türkiye)

About this study

The investigators aim to compare cellular immune response of T cell phenotype and proliferative functions in addition to lymphocyte subset analysis between urea cycle disorders and healthy controls.

Complete blood counts, immunoglobuline levels, lymptocyte subset analysis and Thelper cells will be analyzed. Additionally, T helper cells will be measured regarding their cytokine profile as Th1, Th2 and Th17. T cell proliferation response and aminoacid profiles in supernatants before and after stimulation will be measured.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Children without any chronic conditions and having normal immunoglobulins and lymphocyte subsets

Exclusion criteria

  • For healthy control, children having any signs for primary immune deficiencies

Treatment and study plan

Primary outcomes

  1. Measurement of Th1, Th2 and Th17 cells

    Time frame: baseline

    Th1, Th2 and Th17 cells will be measured following stimulation in cell culture

Secondary outcomes

  1. Measurement of T cell proliferative capacity

    Time frame: baseline

    T cells' proliferation will be measured following stimulation in cell culture

Other outcomes

  1. Measurement of amino acid profile changes before and after stimulation

    Time frame: baseline

    Serum Aminoacids from periphery, in cell culture supernatants before and after stimulation will be measured

Sponsors and collaborators

Lead sponsor

Istanbul University - Cerrahpasa

Other

Registry information

Important dates

Study start
2021
Primary completion
2022
Study completion
2023
First posted
Jan 31, 2023
Registry last updated
Sep 28, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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