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Genetic Studies of Polycystic Livers

  • Study HIC#:0003010983
  • Last Updated:07/15/2021

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.

  • Age18 years and older
  • GenderBoth
  • Start Date03/10/2000
  • End Date04/01/2024

Trial Purpose and Description

To identify additional genes responsible for polycystic livers in order to improve basic understanding of cyst formation in the liver and kidney with the ultimate goal of finding treatments for liver and kidney cystic diseases such as autosomal dominant polycystic kidney disease (ADPKD). Study involves a one-time contact for consent and blood sample collection

Eligibility Criteria

Inclusion criteria:


  • Liver cysts is a requirement for enrollment.
  • Imaging (Ultrasound, CT Scan, or MRI) demonstrating >4 liver cysts if age >40 or any liver cysts if age <40.
  • Ability to provide informed consent

Healthy volunteers without liver cysts are not eligible.

Principal Investigator

Sub-Investigators

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