By InvitationNot Applicable

Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository

United States100 participantsStarted 2018-06-01

Plain-language summary

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.

Who can participate

Age range18 Years – 100 Years

SexALL

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Inclusion Criteria: * Males or females * 18 years of age or older * Confirmed diagnosis of ADPKD * Undergoing a native nephrectomy * Willing and able to provide informed consent Exclusion Criteria: * Unable or unwilling to provide informed consent

What they're measuring

The presence of somatic PKD 1/2 gene mutations in cyst epithelial cells

Timeframe: 10 YEARS

Trial details

NCT IDNCT03901521

SponsorWeill Medical College of Cornell University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-12-31

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