Repository Study of Autosomal Dominant Polycystic Kidney Disease (Repository)

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.

Study Overview

• Status: Withdrawn
• Conditions: 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.

• Study Type: Observational

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 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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Inability to provide informed consent

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
No treatment

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Natural history of Autosomal Dominant Polycystic Kidney Disease (ADPKD) progression	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.	Up to 20 years

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start: November 1, 2013
• Primary Completion (Actual): June 1, 2016
• Study Completion (Actual): June 1, 2016

Study Registration Dates

• First Submitted: November 7, 2013
• First Submitted That Met QC Criteria: November 19, 2013
• First Posted (Estimate): November 20, 2013

Study Record Updates

• Last Update Posted (Actual): March 29, 2017
• Last Update Submitted That Met QC Criteria: March 27, 2017
• Last Verified: March 1, 2017

More Information

Terms related to this study

• Keywords: Disease Progression; Autosomal Dominant Polycystic Kidney Disease; Polycystic Kidney Disease
• Additional Relevant MeSH Terms: Urologic Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Joint Diseases; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Abnormalities, Multiple; Kidney Diseases, Cystic; Ciliopathies; Kidney Diseases; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Dominant; Arthrogryposis
• Other Study ID Numbers: 1305013979