Clinical Care of Autosomal Polycystic Kidney Disease: Retrospective Analysis and Prospective PKD Genotyping (ADPKD)

Chart Review/PKD Genotyping

This is a retrospective analysis to include demographic, clinical, biochemical, and genetic data that will further explore the natural history of ADPKD and assess the factors that are likely to be associated with the progression of disease and the incidence of complications including progressive chronic kidney disease, cardiovascular disease, and cerebrovascular disease.

Study Overview

• Status: Completed
• Conditions: ADPKD

Detailed Description

To explore questions regarding the natural history of PKD, as well as other, unforeseen issues, a comprehensive database of demographic, clinical, biochemical, and genetic data is required. This descriptive retrospective study can serve as a source of information regarding either the entire ADPKD population, or subsets of patients with specifically targeted characteristics. This will inform future prospective studies that will be designed to address issues regarding the natural history and complications of ADPKD.

The goal of this project is to collect data from a large population of patients with PKD. Based upon the estimated prevalence of PKD (1:500 and 1:1000 live births), it is estimated that there may be 10,000 PKD patients in the New York City area. This sample size far exceeds any database established thus far. As many as 40% of affected PKD patients are reportedly unaware of a family history of this disease, in part because many patients may go undiagnosed until they present with a medical complication (e.g., hypertension, kidney failure). Furthermore, this initiative will provide an opportunity to compare data from racially diverse populations.

• Study Type: Observational
• Enrollment (Actual): 79

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10021
      • The Rogosin Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All patients enrolled in this study will have the diagnosis of ADPKD

Description

Inclusion Criteria:

• Subjects should have a confirmed ADPKD diagnosis.

Exclusion Criteria:

• Unable to provide informed consent for PKD Genotyping.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Natural history of ADPKD	Retrospective review to determine clinical, genetic, and radiographic characteristics that may influence the incidence of renal and extrarenal complications of ADPKD and prospective PKD genotyping if not previously performed.	Up to 11 years

Collaborators and Investigators

• Sponsor: The Rogosin Institute
• Collaborators: Weill Medical College of Cornell University
• Investigators: Principal Investigator: Jon Blumenfeld, MD, The Rogosin Institute

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2013
• Primary Completion (Actual): November 1, 2021
• Study Completion (Actual): November 1, 2021

Study Registration Dates

• First Submitted: April 23, 2014
• First Submitted That Met QC Criteria: June 9, 2014
• First Posted (Estimate): June 11, 2014

Study Record Updates

• Last Update Posted (Actual): March 2, 2022
• Last Update Submitted That Met QC Criteria: February 28, 2022
• Last Verified: February 1, 2022

More Information

Terms related to this study

• Keywords: ADPKD; Chart Review; PKD Genotyping
• Other Study ID Numbers: 1308014251