Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
Launched by WEILL MEDICAL COLLEGE OF CORNELL UNIVERSITY · Apr 2, 2019
Trial Information
Current as of May 29, 2025
Enrolling by invitation
Keywords
ClinConnect Summary
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 mu...
Gender
ALL
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
About Weill Medical College Of Cornell University
Weill Medical College of Cornell University is a leading academic institution dedicated to advancing medical research and education. As a prominent sponsor of clinical trials, it focuses on innovative healthcare solutions and the development of new therapies across various medical disciplines. The institution is committed to fostering collaborative research efforts that enhance patient care and improve health outcomes. With a robust infrastructure and a team of experienced researchers and clinicians, Weill Cornell aims to translate scientific discoveries into practical applications, ensuring a strong emphasis on ethical standards and regulatory compliance throughout the clinical trial process.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
New York, New York, United States
Patients applied
Trial Officials
Priya Velu, MD, PhD
Principal Investigator
Weill Medical College of Cornell University
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
Similar Trials