Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository (ADPKD)
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|ClinicalTrials.gov Identifier: NCT03901521|
Recruitment Status : Recruiting
First Posted : April 3, 2019
Last Update Posted : April 3, 2019
|Condition or disease|
|Autosomal Dominant Polycystic Kidney Disease|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||100 participants|
|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|
- 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.
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 ClinicalTrials.gov identifier (NCT number): NCT03901521
|Contact: Hanna Rennert, PhD, FACMGGemail@example.com|
|Contact: Jon Blumenfeld, MDfirstname.lastname@example.org|
|United States, New York|
|Weill Cornell Medicine||Recruiting|
|New York, New York, United States, 10021|
|Contact: Hanna Rennert, PhD 212-746-6412 email@example.com|
|Principal Investigator:||Hanna Rennert, PhD, FACMGG||Weill Cornell Medicine|