Urea Cycle DisorderNCT05706714
Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
An observational study of Urea Cycle Disorder and Lysinuric Protein Intolerance, run by Istanbul University - Cerrahpasa at 1 site in Turkey (Türkiye).
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. Read more about this study
- Who is it for?
- Ages Up to 53 yearsHealthy volunteers can take part
- Conditions the study is for
- Urea Cycle Disorder, Lysinuric Protein Intolerance
- How many people
- 65 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 6 Apr 2021to 1 Sep 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 53 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: patients with a diagnosis of urea cycle disorders and lysinuric protein intolerance
Who may be able to join
- Children without any chronic conditions and having normal immunoglobulins and lymphocyte subsets
Who cannot join
- For healthy control, children having any signs for primary immune deficiencies
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
Istanbul University-Cerrahpasa
Istanbul, 34098
About this study
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.
Read the detailed 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.
- Conditions
- Urea Cycle Disorder, Lysinuric Protein Intolerance
- Medical subject headings
- Urea Cycle Disorders, Inborn, Lysinuric Protein Intolerance
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of Th1, Th2 and Th17 cells
Th1, Th2 and Th17 cells will be measured following stimulation in cell culture
Measured: baseline
Secondary outcomes (1)
Measurement of T cell proliferative capacity
T cells' proliferation will be measured following stimulation in cell culture
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jan 2023
- Study start6 Apr 2021
- Primary completion13 Dec 2022
- Study completion1 Sep 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Urea Cycle DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 65 participants (actual)
Sponsor and investigators
- Lead sponsor
- Istanbul University - Cerrahpasa
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ayca Kiykim, Istanbul University - Cerrahpasa
- Investigators
- Ayca Kiykim, Principal investigator, Istanbul University - Cerrahpasa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05706714
- Sponsor's protocol ID
- IFUCD
- Status last verified
- Sep 2023
- First submitted
- 23 Jan 2023
- Last updated
- 28 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
- ClinicalTrials.gov ID
- NCT05706714
- Acronym / sponsor ID
- IFUCD
- Conditions
- Urea Cycle Disorder, Lysinuric Protein Intolerance
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 65 participants (actual)
- Lead sponsor
- Istanbul University - CerrahpasaUniversity, hospital or other
- Study start
- 6 Apr 2021 (actual)
- Primary completion
- 13 Dec 2022 (actual)
- Study completion
- 1 Sep 2023 (actual)
- First posted
- 31 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- Up to 53 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- patients with a diagnosis of urea cycle disorders and lysinuric protein intolerance
Key inclusion criteria (1 listed)
- Children without any chronic conditions and having normal immunoglobulins and lymphocyte subsets
Key exclusion criteria (1 listed)
- For healthy control, children having any signs for primary immune deficiencies
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Measurement of Th1, Th2 and Th17 cells
Time frame: baseline
Th1, Th2 and Th17 cells will be measured following stimulation in cell culture
1 secondary outcome
Measurement of T cell proliferative capacity
Time frame: baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Sep 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ayca Kiykim principal investigator
Istanbul University - Cerrahpasa
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Urea Cycle Disorder and Lysinuric Protein Intolerance, run by Istanbul University - Cerrahpasa at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measurement of Th1, Th2 and Th17 cells (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Sep 2023.