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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02161068
Recruitment Status : Recruiting
First Posted : June 11, 2014
Last Update Posted : May 20, 2021
Weill Medical College of Cornell University
Information provided by (Responsible Party):
The Rogosin Institute

Brief Summary:
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.

Condition or disease

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.

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Study Type : Observational
Estimated Enrollment : 700 participants
Observational Model: Other
Time Perspective: Retrospective
Official Title: Chart Review/PKD Genotyping
Study Start Date : December 2013
Estimated Primary Completion Date : December 2022
Estimated Study Completion Date : December 2022

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Natural history of ADPKD [ Time Frame: Up to 11 years ]
    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.

Biospecimen Retention:   Samples With DNA
After informed consent is obtained, blood samples for PKD genotyping will be obtained from the study patient. Genotype results will be made available to the patient and they will be referred to a genetic counselor at their request. This service would not be a part of the study and therefore, genetic counseling would be done at the patient's expense.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients enrolled in this study will have the diagnosis of ADPKD

Inclusion Criteria:

  • Subjects should have a confirmed ADPKD diagnosis.

Exclusion Criteria:

  • Unable to provide informed consent for PKD Genotyping.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02161068

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Contact: Ines Chicos, CCRC 212-746-3541

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United States, New York
The Rogosin Institute Recruiting
New York, New York, United States, 10021
Principal Investigator: Jon Blumenfeld, MD         
Sponsors and Collaborators
The Rogosin Institute
Weill Medical College of Cornell University
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Principal Investigator: Jon Blumenfeld, MD The Rogosin Institute
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Responsible Party: The Rogosin Institute Identifier: NCT02161068    
Other Study ID Numbers: 1308014251
First Posted: June 11, 2014    Key Record Dates
Last Update Posted: May 20, 2021
Last Verified: May 2021
Keywords provided by The Rogosin Institute:
Chart Review
PKD Genotyping