Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository

Enrolling by invitation

Conditions studied: Autosomal Dominant Polycystic Kidney Disease

In brief

This study will analyze the germline and somatic mutations underlying the development of ADPKD in order to better understand the genetic mechanism responsible for the cystic transformation. Once identified, these mutations could help us understand better the mechanism leading to the development of this disease and may explain at least in part the phenotypic variability.

Key facts

Study ID

NCT03901521

Run by

Weill Medical College of Cornell University

People needed

100

Starts

2018-06-01

Expected to finish

2028-12-31

Last updated by the study team

2026-01-22

Who can join

Age: 18 and older, up to 100. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Males or females
• 18 years of age or older
• Confirmed diagnosis of ADPKD
• Undergoing a native nephrectomy
• Willing and able to provide informed consent

You may not qualify if…

• Unable or unwilling to provide informed consent

Where it is running

• Weill Cornell Medicine — New York, New York, United States

Full record on ClinicalTrials.gov

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