Autosomal Dominant Polycystic Kidney DiseaseADPKDNCT03901521
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
An observational study of Autosomal Dominant Polycystic Kidney Disease, run by Weill Medical College of Cornell University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Autosomal Dominant Polycystic Kidney Disease
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Jun 2018to 31 Dec 2028
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- Males or females
- 18 years of age or older
- Confirmed diagnosis of ADPKD
- Undergoing a native nephrectomy
- Willing and able to provide informed consent
Who cannot join
- Unable or unwilling to provide informed consent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
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.
Read the 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.
- Medical subject headings
- Polycystic Kidney, Autosomal Dominant
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 10 YEARS
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2019
- Study start1 Jun 2018
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Autosomal Dominant Polycystic Kidney DiseaseStudies of the same condition, open and under way.
- More trials run by Weill Medical College of Cornell UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Weill Medical College of Cornell University
- Sponsor type
- University, hospital or other
- Collaborators
- The Rogosin Institute
- Responsible party
- Sponsor
- Investigators
- Priya Velu, MD, PhD, Principal investigator, Weill Medical College of Cornell University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03901521
- Sponsor's protocol ID
- 1710018665
- Acronym
- ADPKD
- Status last verified
- Jan 2026
- First submitted
- 13 Mar 2019
- Last updated
- 22 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual participant data may be shared with other investigators. Data will be de-identified.
Publications
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.
PubMed 24641620Tan 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.
PubMed 30042192Zhang 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.
PubMed 34716216Zhang 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.
PubMed 26718059Zhang 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.
PubMed 30230107Tan 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.
PubMed 24374109Ben-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.
PubMed 24489795
Study at a glance
From the registry record, last updated by the sponsor on 22 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
- ClinicalTrials.gov ID
- NCT03901521
- Acronym / sponsor ID
- ADPKD / 1710018665
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Weill Medical College of Cornell UniversityUniversity, hospital or other
- Collaborators
- The Rogosin Institute
- Study start
- 1 Jun 2018 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 3 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 10 Years
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- Males or females
- 18 years of age or older
- Confirmed diagnosis of ADPKD
- Undergoing a native nephrectomy
- Willing and able to provide informed consent
Key exclusion criteria (1 listed)
- Unable or unwilling to provide informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jan 2026.
- Background: PubMed 24641620Tan 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.
- Background: PubMed 30042192Tan 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.
- Background: PubMed 34716216Zhang 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.
- Results publication: PubMed 26718059Zhang 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.
- Results publication: PubMed 30230107Zhang 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.
- Results publication: PubMed 24374109Tan 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.
- Results publication: PubMed 24489795Ben-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.
- Individual participant dataSharing planned: Yes. Individual participant data may be shared with other investigators. Data will be de-identified.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Priya Velu, MD, PhD principal investigator
Weill Medical College of Cornell University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autosomal Dominant Polycystic Kidney Disease, run by Weill Medical College of Cornell University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 22 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The presence of somatic PKD 1/2 gene mutations in cyst epithelial cells (time frame: 10 YEARS). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03901521, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jan 2026; AzTrials last refreshed its copy on 7 Nov 2026.