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Prospective Polycystic Kidney Disease Genotyping

Disease

Autosomal Dominant Polycystic Kidney Disease

Protocol Title

Clinical Care of Autosomal Dominant Polycystic Kidney Disease: Retrospective Analysis and Prospective PKD Genotyping

Principal Investigator

Jon D. Blumenfeld M.D.

Contact Information

Ines Chicos, MS, CCRC
Telephone: 212-746-3541
Fax: 212-288-8370
Email: inc9012@nyp.org

Enrollment Status

Open to Enrollment

Summary

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, affecting more than 500,000 people in the U.S. and 10 million people worldwide. PKD is the 4th most common cause of kidney failure requiring dialysis and/or transplantation. Over half of all PKD patients develop kidney failure by age 60 years, although the age of onset of kidney disease varies widely, even among members of the same family. The reason for creating this chart review is to collect information about PKD so that we may understand its complications, including high blood pressure, kidney failure, stroke, and cardiovascular disease. This information may also aid in the development of improved methods for diagnosis of ADPKD and strategies for treatment. About 700 charts will be reviewed. Subjects who do not have the genetic results will be asked to participate in a blood sample.

Potential Benefits

We expect to improve our understanding of polycystic kidney disease. However, we cannot guarantee that participants will benefit from this study.

Location

The study will be conducted at The Rogosin Institute, PKD Center located at 505 East 70th Street, 2nd Floor.

IRB Information

Weill Cornell Medical College IRB
Protocol # 1308014251
ClinicalTrials.gov NCT02161068
Identifier: NCT02161068

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