NCT03901521|Enrolling By Invitation
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
ADPKD
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ADPKD
Sponsor study identifier
observational
100
1 country
1
Study Start
June 1, 2018
Actual (reported)Primary Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
June 1, 2018
Actual (reported)March 13, 2019
Actual (reported)April 3, 2019
Actual (reported)December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
The presence of somatic PKD 1/2 gene mutations in cyst epithelial cells
The presence of mutations will be measured by next generation sequencing (NGS) and other tools for mutation analysis.
10 YEARS
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.
Weill Cornell Medicine
New York, New York, 10021, United States
Tan AY, Blumenfeld J, Michaeel A, Donahue S, Bobb W, Parker T, Levine D, Rennert H. Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism. Clin Genet. 2015 Apr;87(4):373-7. doi: 10.1111/cge.12383. Epub 2014 Apr 26.
Tan AY, Zhang T, Michaeel A, Blumenfeld J, Liu G, Zhang W, Zhang Z, Zhu Y, Rennert L, Martin C, Xiang J, Salvatore SP, Robinson BD, Kapur S, Donahue S, Bobb WO, Rennert H. Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2018 Aug;29(8):2139-2156. doi: 10.1681/ASN.2017080878. Epub 2018 Jul 24.
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.
Priya Velu, MD, PhD
Weill Medical College of Cornell University
First Submitted
March 13, 2019
First Posted
April 3, 2019
Study Start
June 1, 2018
Actual (reported)Primary Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
NOX4 and Related Biomarkers in ADPKD
Contact the study team to confirm eligibility.
Zhang Z, Bai H, Blumenfeld J, Ramnauth AB, Barash I, Prince M, Tan AY, Michaeel A, Liu G, Chicos I, Rennert L, Giannakopoulos S, Larbi K, Hughes S, Salvatore SP, Robinson BD, Kapur S, Rennert H. Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing. J Am Soc Nephrol. 2021 Dec 1;32(12):3114-3129. doi: 10.1681/ASN.2021050690. Epub 2021 Dec 1.
Zhang W, Tan AY, Blumenfeld J, Liu G, Michaeel A, Zhang T, Robinson BD, Salvatore SP, Kapur S, Donahue S, Bobb WO, Rennert H. Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease. Cancer Genet. 2016 Jan-Feb;209(1-2):11-20. doi: 10.1016/j.cancergen.2015.11.002. Epub 2015 Dec 1.
Zhang W, Stephens CJ, Blumenfeld JD, Behzadi AH, Donahue S, Bobb WO, Newhouse JH, Rennert H, Zhao Y, Prince MR. Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease. J Magn Reson Imaging. 2019 Mar;49(3):894-903. doi: 10.1002/jmri.26289. Epub 2018 Sep 19.
Tan AY, Michaeel A, Liu G, Elemento O, Blumenfeld J, Donahue S, Parker T, Levine D, Rennert H. Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. J Mol Diagn. 2014 Mar;16(2):216-28. doi: 10.1016/j.jmoldx.2013.10.005. Epub 2013 Dec 27.
Ben-Dov IZ, Tan YC, Morozov P, Wilson PD, Rennert H, Blumenfeld JD, Tuschl T. Urine microRNA as potential biomarkers of autosomal dominant polycystic kidney disease progression: description of miRNA profiles at baseline. PLoS One. 2014 Jan 29;9(1):e86856. doi: 10.1371/journal.pone.0086856. eCollection 2014.
Study Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
January 22, 2026
Record last verified: 2026-01
Individual participant data may be shared with other investigators. Data will be de-identified.
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