Th1, Th2, Th17 Phenotype in Urea Cycle Disorders

Istanbul University - Cerrahpasa (IUC)

Status: Completed

Conditions: Urea Cycle Disorder; Lysinuric Protein Intolerance

Study type: Observational

Funder types: Other

Identifiers

NCT05706714

IFUCD

Details and patient eligibility

About

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.

Full 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.

Enrollment: 65 patients

Sex: All

Ages: Under 53 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

65 participants in 3 patient groups

Patients with urea cycle disorder

Description:

Patients with inborn errors of metabolism resulting from defects in one of the enzymes or transporter molecules involved in the hepatic removal of ammonia from the bloodstream

Patients with lysinuric protein intolerance

Description:

Patients with disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine

Healthy control

Description:

Children without any comorbidity and chronic diseases.