Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository

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Brief Title

Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository

Official Title

Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository

Brief 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.
    

Detailed Description

      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.
    


Study Type

Observational [Patient Registry]


Primary Outcome

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


Condition

Autosomal Dominant Polycystic Kidney Disease



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

100

Start Date

June 1, 2018

Completion Date

December 31, 2029

Primary Completion Date

December 31, 2029

Eligibility Criteria

        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
      

Gender

All

Ages

18 Years - 100 Years


Contacts

Hanna Rennert, PhD, FACMGG, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT03901521

Organization ID

1710018665


Responsible Party

Sponsor

Study Sponsor

Weill Medical College of Cornell University

Collaborators

 The Rogosin Institute

Study Sponsor

Hanna Rennert, PhD, FACMGG, Principal Investigator, Weill Medical College of Cornell University


Verification Date

July 2021