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Enrolling by Invitation

NCT Number: NCT03901521

Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository

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.

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Key information

Conditions

Autosomal Dominant Polycystic Kidney Disease Abnormalities, Multiple Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Kidney Diseases, Cystic Male Urogenital Diseases Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Urogenital Diseases Urologic Diseases

Age range

18 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Weill Cornell Medicine

New York, 10021, United States

About this study

The presentation of ADPKD renal and extrarenal manifestations varies widely, even within families, and has been attributed to numerous genetic factors. One principal explanation came with the discovery that renal cyst lining cells from ADPKD patients undergo secondary somatic mutations, selective loss of the second copy of a respective normal polycystic kidney disease (PKD) gene. These somatic mutations can occur in either polycystic kidney disease 1 (PKD1) or polycystic kidney disease 2 (PKD2). Furthermore, various cysts in the same patient have been reported to harbor different somatic mutations. These findings implicated a cellular recessive mechanism for cyst formation in ADPKD, suggesting the possibility that the observed intra-familial variation in disease phenotype may, at least in part, be explained by variation in mutation type, the timing and number of somatic "second-hit" mutations in individual family members affected with the disease. However, there is currently very little known about the cellular genetic mechanism leading to cysts development and very few studies, addressing this issue.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

    Time frame: 10 YEARS

    The presence of mutations will be measured by next generation sequencing (NGS) and other tools for mutation analysis.

Sponsors and collaborators

Lead sponsor

Weill Medical College of Cornell University

Other

Collaborators

  • The Rogosin Institute

Registry information

Acronym: ADPKD

Important dates

Study start
2018
Primary completion
2028
Study completion
2028
First posted
Apr 3, 2019
Registry last updated
Jan 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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