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Repository Study of Autosomal Dominant Polycystic Kidney Disease (Repository)

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. Read our disclaimer for details. Identifier: NCT01988038
Recruitment Status : Withdrawn (No participants were enrolled.)
First Posted : November 20, 2013
Last Update Posted : March 29, 2017
Weill Medical College of Cornell University
New York Presbyterian Hospital
Information provided by (Responsible Party):
The Rogosin Institute

Brief Summary:
The design and establishment of the Polycystic Kidney Disease (PKD) Data Repository does not require, and may be constrained by, a narrowly conceived hypothesis. However, the PKD Repository has been designed to include demographic, clinical, biochemical, and genetic data that will further explore the natural history of the disorder and assess the factors that are likely to be associated with the progression of disease and the incidence of complications including renal failure, cardiovascular disease, and stroke.

Condition or disease
Autosomal Dominant Polycystic Kidney Disease

Detailed Description:
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 [Patient Registry]
Actual Enrollment : 0 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Repository Study of Autosomal Dominant Polycystic Kidney Disease
Study Start Date : November 2013
Actual Primary Completion Date : June 2016
Actual Study Completion Date : June 2016

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Kidney Diseases

No treatment

Primary Outcome Measures :
  1. Natural history of Autosomal Dominant Polycystic Kidney Disease (ADPKD) progression [ Time Frame: Up to 20 years ]
    The primary interest of this protocol is to characterize the renal and extrarenal manifestations of ADPKD, evaluate the natural history of the disease progression, and explore potential associations between PKD gene variants and ADPKD phenotype.

Biospecimen Retention:   Samples With DNA
Blood sample for genotyping of specific PKD1 and PKD2 mutations. Buccal and/or semen sample (optional and only if needed)

Information from the National Library of Medicine

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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 autosomal dominant polycystic kidney disease (ADPKD). The diagnostic criteria for at-risk individuals (i.e., with a first degree family member with ADPKD) includes the presence of at least two (unilateral or bilateral) renal cysts, and two cysts in each kidney are considered sufficient for diagnosis in aged 15 to 29 years and in 30 to 59 years, respectively. In families of unknown genotype, the presence of one or more (unilateral or bilateral) renal cysts is sufficient for establishing the diagnosis in individuals aged 15 to 29 years, two or more cysts in each kidney is sufficient for individuals aged 30-49 years.

Inclusion Criteria:

  • Males and females
  • Age 18 years and older
  • Previously diagnosed with ADPKD

Exclusion Criteria:

  • Inability to provide informed consent

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): NCT01988038

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United States, New York
The Rogosin Institute
New York, New York, United States, 10021
Sponsors and Collaborators
The Rogosin Institute
Weill Medical College of Cornell University
New York Presbyterian Hospital
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Principal Investigator: Jon Blumenfeld, MD The Rogosin Institute

Additional Information:

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Responsible Party: The Rogosin Institute Identifier: NCT01988038     History of Changes
Other Study ID Numbers: 1305013979
First Posted: November 20, 2013    Key Record Dates
Last Update Posted: March 29, 2017
Last Verified: March 2017

Keywords provided by The Rogosin Institute:
Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease
Disease Progression

Additional relevant MeSH terms:
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Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Urologic Diseases
Kidney Diseases, Cystic
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn