Th1, Th2, Th17 Phenotype in Urea Cycle Disorders

NCT05706714 | Completed

• 1 other identifier: IFUCD
• Study Type: observational
• Target: 65
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Urea Cycle Disorder; Lysinuric Protein Intolerance

Outcome Measures

Primary Outcomes (1)

• Measurement of Th1, Th2 and Th17 cells

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

  baseline

Secondary Outcomes (1)

• Measurement of T cell proliferative capacity

  baseline

Other Outcomes (1)

• Measurement of amino acid profile changes before and after stimulation

  baseline

Study Arms (3)

Patients with urea cycle disorder

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

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

Children without any comorbidity and chronic diseases.

Eligibility Criteria

• Age: Up to 53 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

patients with a diagnosis of urea cycle disorders and lysinuric protein intolerance

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Istanbul University - Cerrahpasa: lead

Study Sites (1)

Istanbul University-Cerrahpasa

Istanbul, 34098, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Urea Cycle Disorders, Inborn; Lysinuric Protein Intolerance

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Ayca Kiykim

  Istanbul University - Cerrahpasa

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: January 23, 2023
• First Posted: January 31, 2023
• Study Start: April 6, 2021
• Primary Completion: December 13, 2022
• Study Completion: September 1, 2023
• Last Updated: September 28, 2023

Record last verified: 2023-09

Locations

TU (1)