Repository Study of Autosomal Dominant Polycystic Kidney Disease
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|
- 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)
|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)|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01988038
|Contact: Ines Chicos, BSfirstname.lastname@example.org|
|United States, New York|
|The Rogosin Institute||Recruiting|
|New York, New York, United States, 10021|
|Contact: Warren Bobb, NP 212-746-9114 email@example.com|
|Principal Investigator:||Jon Blumenfeld, MD||The Rogosin Institute|