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Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository (ADPKD)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03901521
Recruitment Status : Recruiting
First Posted : April 3, 2019
Last Update Posted : April 3, 2019
The Rogosin Institute
Information provided by (Responsible Party):
Weill Medical College of Cornell University

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.

Condition or disease
Autosomal Dominant Polycystic Kidney Disease

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
Actual Study Start Date : June 1, 2018
Estimated Primary Completion Date : December 31, 2029
Estimated Study Completion Date : December 31, 2029

Primary Outcome Measures :
  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.

Biospecimen Retention:   Samples With DNA

Dr. Rennert's Molecular Genetic Research laboratory personnel at the Pathology and Laboratory Medicine Department of Weill Cornell Medicine (WCM) will coordinate the process of sample handling with the surgeon.

This study will be using native kidney tissue from ADPKD subjects received in the Surgical Pathology Laboratory (Starr 10), at the Department of Pathology and Laboratory Medicine. The kidney tissue will be collected on the day of the native nephrectomy, following examination and clearance by the surgical pathologist. Immediately after the ADPKD kidney is removed, it will be collected in the Operating Room (OR) using a sterile container and a co-investigator will deliver the specimen to Surgical Pathology.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Inclusion criteria include patients with a diagnosis of end-stage renal disease caused by ADPKD who are scheduled for native nephrectomy. The clinical indications for native nephrectomy will be determined by the surgeon prior to enrollment of the subject. These patients will be identified during the pre-operative evaluation that occurs prior to the surgery. At the time of this evaluation, subject eligibility will be assessed by a co-investigator and their willingness to participate will be evaluated. Subjects who agree to participate will provide informed consent, and blood samples (30 mL) will be obtained for extraction of nucleic acids, in addition to the routine preoperative blood tests.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03901521

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Contact: Hanna Rennert, PhD, FACMGG 212-746-6412
Contact: Jon Blumenfeld, MD 212-746-1495

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United States, New York
Weill Cornell Medicine Recruiting
New York, New York, United States, 10021
Contact: Hanna Rennert, PhD    212-746-6412   
Sponsors and Collaborators
Weill Medical College of Cornell University
The Rogosin Institute
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Principal Investigator: Hanna Rennert, PhD, FACMGG Weill Cornell Medicine
Additional Information:

Publications of Results:
Other Publications:
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Responsible Party: Weill Medical College of Cornell University Identifier: NCT03901521    
Other Study ID Numbers: 1710018665
First Posted: April 3, 2019    Key Record Dates
Last Update Posted: April 3, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Individual participant data may be shared with other investigators. Data will be de-identified.
Supporting Materials: Study Protocol
Access Criteria: Researchers who provide a methodologically sound proposal.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Urologic Diseases
Joint Diseases
Musculoskeletal Diseases
Muscular Diseases
Musculoskeletal Abnormalities
Congenital Abnormalities
Kidney Diseases, Cystic
Abnormalities, Multiple
Genetic Diseases, Inborn