A Study to Evaluate Homocysteine Metabolism and Endothelial Function in ADPKD

NCT05193981 | Active Not Recruiting DMC

• 2 other identifiers: 20-0053121R01DK128017-01
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

Brief 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 early Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Conditions

Autosomal Dominant Polycystic Kidney Disease

Keywords

Autosomal Dominant Polycystic Kidney Disease (ADPKD); Endothelial function; Endothelial dysfunction; Homocysteine metabolism; Oxidative stress; NADPH oxidase 4 (NOX4)

Outcome Measures

Primary Outcomes (2)

• Change in height adjusted Total kidney volume (htTKV)

  TKV determined by MRI

  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

  Baseline to 24 months

Secondary Outcomes (6)

• Change in systemic endothelial function

  Baseline to 24 months

• Change in biochemical markers related to endothelial function and injury

  Baseline to 24 months

• Change in homocysteine and related metabolite levels

  Baseline to 24 months

• Change in Renal blood flow (RBF)

  Baseline to 24 months

• Change in estimated Glomerular filtration rate (GFR)

  Baseline to 24 months

Study Arms (1)

Patients with a previous diagnosis of ADPKD

Patients that have been diagnosed with ADPKD and meet the study's inclusion criteria

Eligibility Criteria

• Age: 15 Years - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Male and female patients with a previous diagnosis of ADPKD that meet the inclusion criteria.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Mayo Clinic: lead
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Related Links

• Study information

Biospecimen

Retention: SAMPLES WITHOUT DNA

Urine and plasma samples

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant

Condition Hierarchy (Ancestors)

Polycystic Kidney Diseases; Kidney Diseases, Cystic; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliopathies; Genetic Diseases, Inborn

Study Officials

• Maria V Irazabal, M.D.;Ph.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 3, 2022
• First Posted: January 18, 2022
• Study Start: September 14, 2021
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: April 16, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)