Th1, Th2, Th17 Phenotype in Urea Cycle Disorders

Urea Cycle Disorder Clinical Trial

Official title:

Th1, Th2, Th17 Phenotype in Urea Cycle Disorders

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05706714
• Other study ID #: IFUCD
• Status: Completed
• Start date: April 6, 2021
• Est. completion date: September 1, 2023

Study information

• Verified date: September 2023
• Source: Istanbul University - Cerrahpasa (IUC)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 65
• Est. completion date: September 1, 2023
• Est. primary completion date: December 13, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A to 53 Years

Eligibility

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

Related Conditions & MeSH terms

• Urea Cycle Disorder
• Urea Cycle Disorders, Inborn

Locations

Country	Name	City	State
Turkey	Istanbul University-Cerrahpasa	Istanbul

Sponsors (1)

Lead Sponsor	Collaborator
Istanbul University - Cerrahpasa (IUC)

Country where clinical trial is conducted

Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Measurement of amino acid profile changes before and after stimulation	Serum Aminoacids from periphery, in cell culture supernatants before and after stimulation will be measured	baseline
Primary	Measurement of Th1, Th2 and Th17 cells	Th1, Th2 and Th17 cells will be measured following stimulation in cell culture	baseline
Secondary	Measurement of T cell proliferative capacity	T cells' proliferation will be measured following stimulation in cell culture	baseline