An observational study in Autosomal Dominant Polycystic Kidney Disease, sponsored by Mayo Clinic. Active, not recruiting at 1 site in United States. Open to participants aged 15 Years to 40 Years. Per ClinicalTrials.gov, last updated 2026-04-16.
Sponsored by Mayo Clinic · Observational
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).
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).
173 studies on the registry are indexed under Polycystic Kidney, Autosomal Dominant; 37 are open to participants now.
This study's enrollment of 80 is below the median of 150 across 43 observational studies indexed under Polycystic Kidney, Autosomal Dominant.
Browse Polycystic Kidney, Autosomal Dominant studies →Mayo Clinic is the lead sponsor of 3,218 studies on the registry; 670 are open to participants now.
Of its 445 completed or terminated interventional studies of FDA-regulated products, 313 (70%) have results posted.
Counted across the registry records on this site, refreshed daily.
Male and female patients with a previous diagnosis of ADPKD that meet the inclusion criteria.
Exclusion Criteria:
Patients that have been diagnosed with ADPKD and meet the study's inclusion criteria
Change in height adjusted Total kidney volume (htTKV)
TKV determined by MRI
Time frame: 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
Time frame: Baseline to 24 months
Change in systemic endothelial function
Endothelial function determined by PAT
Time frame: Baseline to 24 months
Change in biochemical markers related to endothelial function and injury
Determined by ELISA and/or biochemical assays
Time frame: Baseline to 24 months
Change in homocysteine and related metabolite levels
Determined by 1HNMR, Mass spect, ELISA
Time frame: Baseline to 24 months
Change in Renal blood flow (RBF)
Determined by MRI
Time frame: Baseline to 24 months
Change in estimated Glomerular filtration rate (GFR)
eGFR determined by CKD-epi equation
Time frame: Baseline to 24 months
NADPH oxidase 4 (NOX4) expression/activity
Determined by ELISA
Time frame: Baseline to 24 months
Plan to share: No
This study is active, not recruiting, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.
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Polycystic Kidney, Autosomal Dominant→
Mayo Clinic