Repository Study of Autosomal Dominant Polycystic Kidney Disease (Repository)

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2016 by The Rogosin Institute
Weill Medical College of Cornell University
New York Presbyterian Hospital
Information provided by (Responsible Party):
The Rogosin Institute Identifier:
First received: November 7, 2013
Last updated: February 8, 2016
Last verified: February 2016
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.

Autosomal Dominant Polycystic Kidney Disease

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Repository Study of Autosomal Dominant Polycystic Kidney Disease

Resource links provided by NLM:

Further study details as provided by The Rogosin Institute:

Primary Outcome Measures:
  • Natural history of Autosomal Dominant Polycystic Kidney Disease (ADPKD) progression [ Time Frame: Up to 20 years ] [ Designated as safety issue: No ]
    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)

Estimated Enrollment: 300
Study Start Date: November 2013
Estimated Study Completion Date: November 2053
Estimated Primary Completion Date: November 2023 (Final data collection date for primary outcome measure)
No treatment

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.

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01988038

Contact: Ines Chicos, BS 212-746-3541

United States, New York
The Rogosin Institute Recruiting
New York, New York, United States, 10021
Contact: Warren Bobb, NP    212-746-9114   
Sponsors and Collaborators
The Rogosin Institute
Weill Medical College of Cornell University
New York Presbyterian Hospital
Principal Investigator: Jon Blumenfeld, MD The Rogosin Institute
  More Information

Responsible Party: The Rogosin Institute Identifier: NCT01988038     History of Changes
Other Study ID Numbers: 1305013979 
Study First Received: November 7, 2013
Last Updated: February 8, 2016
Health Authority: United States: Institutional Review Board

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

Additional relevant MeSH terms:
Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Kidney Diseases, Cystic
Urologic Diseases processed this record on May 23, 2016