Autosomal Dominant Polycystic Kidney DiseaseHCYNCT05193981
A Study to Evaluate Homocysteine Metabolism and Endothelial Function in ADPKD
An observational study of Autosomal Dominant Polycystic Kidney Disease, run by Mayo Clinic at 1 site in United States.
Trial summary
The purpose of this study is to assess homocysteine metabolism and systemic endothelial function at the early stages of the disease and determine the prognostic value of homocysteine, related metabolites, and markers of endothelial function and injury to estimate renal disease severity and progression in patients with… Read more about this study
- Who is it for?
- Ages 15 to 40 years
- Conditions the study is for
- Autosomal Dominant Polycystic Kidney Disease
- How many people
- 80 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Sep 2021to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 15 to 40 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Male and female patients with a previous diagnosis of ADPKD that meet the inclusion criteria.
Who may be able to join
- Male and Female subjects, 15-40 years of age, inclusive
- Previous diagnosis of ADPKD (Based on Ravine et al. criteria)
- Class 1 according to imaging classification
- Estimated GFR>70 mL/min/1.73m^2(CKD-EPI)
- Ability to provide written, informed consent.
Who cannot join
- Class 2 according to imaging classification
- A concomitant systemic disease affecting the kidney
- Diabetes mellitus
- Predicted urine protein excretion in urinalysis >1 g/24 hrs
- Subjects having contraindications to or interference with MRI assessments
- Patients that are part of an interventional study or taking tolvaptan
- Female subjects that are pregnant
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Role of Homocysteine Metabolism, Endothelial Function and Microvascular Rarefaction on Renal Disease Severity and Progression in ADPKD
The purpose of this study is to assess homocysteine metabolism and systemic endothelial function at the early stages of the disease and determine the prognostic value of homocysteine, related metabolites, and markers of endothelial function and injury to estimate renal disease severity and progression in patients with early Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Read the detailed description
ADPKD is a devastating systemic disorder characterized by progressive development and enlargement of bilateral renal cysts, often leading to renal failure. Disease severity and progression vary widely among patients. Large phenotypic variability, incomplete understanding of underlying mechanisms, and lack of suitable biomarkers challenge potential therapies' identification, implementation, and evaluation.
In ADPKD, systemic endothelial dysfunction (ED), characterized by an imbalance between vasodilating (particularly nitric oxide, NO) and vasoconstricting substances, develops early and correlates with renal disease severity. It has been previously associated with decreased NO availability, but NO abnormalities' mechanisms are still poorly understood. Endothelium-dependent, NO-mediated vasodilation is impaired in subjects with hyperhomocysteinemia, suggesting that NO availability is decreased in these subjects. Increased plasma levels of homocysteine have been reported in patients with ADPKD and preserved kidney function, likely contributing to a reduction in NO bioavailability. The mechanisms underlying increased homocysteine in ADPKD are not known. Furthermore, whether systemic endothelial function and injury or homocysteine levels can predict renal disease severity and progression in patients is unknown.
The investigators' broad objective is to assess homocysteine metabolism and systemic endothelial function at the early stages of the disease and determine the prognostic value of homocysteine, related metabolites, and markers of endothelial function and injury to estimate renal disease severity and progression in patients with early ADPKD.
Participants in this study will have a blood and a urine sample collected to determine biomarkers of oxidative stress, endothelial function and injury, homocysteine, and related metabolite levels. In addition, peripheral arterial tonometry (PAT) will determine systemic endothelial function, and an abdominal MRI will be performed to determine the patient's total kidney volume (TKV).
- Keywords
- Autosomal Dominant Polycystic Kidney Disease (ADPKD), Endothelial function, Endothelial dysfunction, Homocysteine metabolism, Oxidative stress, NADPH oxidase 4 (NOX4)
- Medical subject headings
- Polycystic Kidney, Autosomal Dominant
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 a previous diagnosis of ADPKD | Patients that have been diagnosed with ADPKD and meet the study's inclusion criteria |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in height adjusted Total kidney volume (htTKV)
TKV determined by MRI
Measured: Baseline to 24 months
Baseline endothelial function, homocysteine and related metabolite levels as predictors of change in TKV
Endothelial function determined by PAT and biochemical markers, TKV determined by MRI
Measured: Baseline to 24 months
Secondary outcomes (6)
Change in systemic endothelial function
Endothelial function determined by PAT
Measured: Baseline to 24 months
Change in biochemical markers related to endothelial function and injury
Determined by ELISA and/or biochemical assays
Measured: Baseline to 24 months
Change in homocysteine and related metabolite levels
Determined by 1HNMR, Mass spect, ELISA
Measured: Baseline to 24 months
Change in Renal blood flow (RBF)
Determined by MRI
Measured: Baseline to 24 months
Change in estimated Glomerular filtration rate (GFR)
eGFR determined by CKD-epi equation
Measured: Baseline to 24 months
NADPH oxidase 4 (NOX4) expression/activity
Determined by ELISA
Measured: Baseline to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2022
- Study start14 Sep 2021
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autosomal Dominant Polycystic Kidney DiseaseStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 80 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Maria V. Irazabal Mira, Mayo Clinic
- Investigators
- Maria V Irazabal, M.D.;Ph.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05193981
- Sponsor's protocol ID
- 20-005312
- Other IDs
- 1R01DK128017-01
- Acronym
- HCY
- Status last verified
- Apr 2026
- First submitted
- 3 Jan 2022
- Last updated
- 16 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of Homocysteine Metabolism, Endothelial Function and Microvascular Rarefaction on Renal Disease Severity and Progression in ADPKD
- ClinicalTrials.gov ID
- NCT05193981
- Acronym / sponsor ID
- HCY / 20-005312
- Keywords
- Autosomal Dominant Polycystic Kidney Disease (ADPKD), Endothelial function, Endothelial dysfunction, Homocysteine metabolism, Oxidative stress, NADPH oxidase 4 (NOX4)
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 80 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- 14 Sep 2021 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 18 Jan 2022 (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.
The purpose of this study is to assess homocysteine metabolism and systemic endothelial function at the early stages of the disease and determine the prognostic value of homocysteine, related metabolites, and markers of endothelial function and injury to estimate renal disease severity and progression in patients with early Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Detailed description
ADPKD is a devastating systemic disorder characterized by progressive development and enlargement of bilateral renal cysts, often leading to renal failure. Disease severity and progression vary widely among patients. Large phenotypic variability, incomplete understanding of underlying mechanisms, and lack of suitable biomarkers challenge potential therapies' identification, implementation, and evaluation.
In ADPKD, systemic endothelial dysfunction (ED), characterized by an imbalance between vasodilating (particularly nitric oxide, NO) and vasoconstricting substances, develops early and correlates with renal disease severity. It has been previously associated with decreased NO availability, but NO abnormalities' mechanisms are still poorly understood. Endothelium-dependent, NO-mediated vasodilation is impaired in subjects with hyperhomocysteinemia, suggesting that NO availability is decreased in these subjects. Increased plasma levels of homocysteine have been reported in patients with ADPKD and preserved kidney function, likely contributing to a reduction in NO bioavailability. The mechanisms underlying increased homocysteine in ADPKD are not known. Furthermore, whether systemic endothelial function and injury or homocysteine levels can predict renal disease severity and progression in patients is unknown.
The investigators' broad objective is to assess homocysteine metabolism and systemic endothelial function at the early stages of the disease and determine the prognostic value of homocysteine, related metabolites, and markers of endothelial function and injury to estimate renal disease severity and progression in patients with early ADPKD.
Participants in this study will have a blood and a urine sample collected to determine biomarkers of oxidative stress, endothelial function and injury, homocysteine, and related metabolite levels. In addition, peripheral arterial tonometry (PAT) will determine systemic endothelial function, and an abdominal MRI will be performed to determine the patient's total kidney volume (TKV).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with a previous diagnosis of ADPKD | – | –Patients that have been diagnosed with ADPKD and meet the study's inclusion criteria |
Who may qualify
- Ages
- 15 to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Male and female patients with a previous diagnosis of ADPKD that meet the inclusion criteria.
Key inclusion criteria (5 listed)
- Male and Female subjects, 15-40 years of age, inclusive
- Previous diagnosis of ADPKD (Based on Ravine et al. criteria)
- Class 1 according to imaging classification
- Estimated GFR>70 mL/min/1.73m^2(CKD-EPI)
- Ability to provide written, informed consent.
Key exclusion criteria (7 listed)
- Class 2 according to imaging classification
- A concomitant systemic disease affecting the kidney
- Diabetes mellitus
- Predicted urine protein excretion in urinalysis >1 g/24 hrs
- Subjects having contraindications to or interference with MRI assessments
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
Change in height adjusted Total kidney volume (htTKV)
Time frame: Baseline to 24 months
TKV determined by MRI
Baseline endothelial function, homocysteine and related metabolite levels as predictors of change in TKV
Time frame: Baseline to 24 months
Endothelial function determined by PAT and biochemical markers, TKV determined by MRI
6 secondary outcomes
Change in systemic endothelial function
Time frame: Baseline to 24 months
Change in biochemical markers related to endothelial function and injury
Time frame: Baseline to 24 months
Change in homocysteine and related metabolite levels
Time frame: Baseline to 24 months
Change in Renal blood flow (RBF)
Time frame: Baseline to 24 months
Change in estimated Glomerular filtration rate (GFR)
Time frame: Baseline to 24 months
NADPH oxidase 4 (NOX4) expression/activity
Time frame: Baseline to 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Apr 2026.
- Study informationLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
Maria V Irazabal, M.D.;Ph.D. principal investigator
Mayo Clinic
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 Autosomal Dominant Polycystic Kidney Disease, run by Mayo Clinic at 1 site in United States.
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 5 inclusion and 7 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: under way, not looking for participants, as of the sponsor's last update on 16 Apr 2026. 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 United States. 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?
This study is still under way. Results are not available in the source record yet.
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?
Change in height adjusted Total kidney volume (htTKV) (time frame: Baseline to 24 months). The study lists 2 primary outcomes in all. 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 16 Apr 2026.