Genetic Studies of Polycystic Livers

What is the purpose of this trial?

Our study will use genetic testing of people with multiple liver cysts to help explain the cause of liver and kidney cysts. The combination of liver and kidney cysts occurs most often in autosomal dominant polycystic kidney (ADPKD). People with ADPKD often have mostly kidney cysts and these cysts cause kidney failure in many individuals. The genetic causes of ADPKD are known, but treatments are still desperately needed.

Our study is focused on people who have liver cysts alone or with few kidney cysts, because the genetic causes of this are largely unknown but are relevant to both conditions. Most people with liver cysts will never know they have liver cysts and their cysts will not make them sick. Only rarely does this condition progress to causing symptoms requiring treatment. We would like to enroll anyone with many liver cysts meeting our criteria. We then use genetic testing and analysis to discovery gene mutations that cause liver cysts. Our goal is to find and study these genes in order to find targets for treatment of liver and kidney cysts in the future.

Participation requires a one-time blood sample for research genetic testing.  Participants must be 18 years of age. Information is kept strictly confidential, although genetic results can be communicated via your physician upon request.


Participation Guidelines

Ages: 18 years and older

Gender: Both


National Institute of Diabetes and Digestive & Kidney Diseases

Start Date: 03/10/2000

End Date: 12/31/2020

Last Updated: 06/22/2018

Study HIC#: 0003010983

Get Involved

For more information about this study, contact:
Whitney Besse
+1 203-737-2974
obrien.center@yale.edu

If you would prefer to contact a member of the Help us Discover team about this trial and other similar trials, please email helpusdiscover@yale.edu or call 1-877-978-8348.

Trial Image

Investigators

Stefan Somlo

Principal Investigator

Sub-Investigators