Genetic Studies of Chronic Kidney Disease (CKD)

The Genetic Studies of Chronic Kidney Disease (CKD) is an ongoing genetic research and biobanking protocol which aims to elucidate the genetic basis CKD. The study recruits patients seen at the Columbia University Medical Center (CUMC) Nephrology Division for the evaluation and care of CKD. All patients clinically diagnosed with CKD are eligible to participate; there are no inclusion or exclusion criteria related to age, sex/gender, and/or race/ethnicity. In addition to office visits, patients are recruited in contexts including perinatal care and nonprofit events for patients with various forms of CKD; recruitment tools include bilingual informational brochures, flyers, and consent forms. All individuals provide informed consent; for minors, signature of the parent/guardian is required. Consent includes: use of biosamples given for genetic studies, and the request to be re-contacted if medically actionable genetic findings are identified. In the case of the latter, such research-level findings are first validated in a clinically certified (CLIA) laboratory environment, using a second sample given by the individual at the time of re-contact; following CLIA validation, the individual is once again re-contacted, and, assuming he or she still desires return of these results, they can then be returned.

Following the above consent process to participate in the study, individuals provide a single biosample (generally, a venous blood sample), from which DNA is extracted using standard protocols and used for genetic studies, such as exome sequencing. Basic clinical and demographic data, including sex/gender, age, and race/ethnicity are also collected. All data collected is stored in a secure computerized database, with patient samples anonymized using numerical identifiers; the relation of this identifier to patients' names is kept in a locked computer file in a centralized database. Electronic data complies with all HIPAA and other privacy and security regulations, and resides on a firewall server maintained by the CUMC IT department.

• Study Design:
  • Case Set
• Study Type:
  • Case Set
• Total number of consented subjects: 1392
• Subject Sample Telemetry Report (SSTR)

Inclusion criteria are a clinical diagnosis of CKD. All patients with a clinical diagnosis of CKD are eligible, irrespective of age, sex/gender, and/or race/ethnicity. Criteria for clinical diagnosis of CKD include: the presence of renal failure requiring dialysis or transplantation; creatinine >1.5 mg/dL in men or >1.3 mg/dL in women with or without proteinuria; and/or the presence of significant proteinuria or hematuria indicative of active glomerular disease.

The Genetic Studies of CKD protocol began enrolling patients in 2004; as of December 2018, over 3,300 individuals have been enrolled.

• Primary Phenotype: Renal Insufficiency, Chronic

• BioProject
• PubMed
• MeSH
• PMC

• Principal Investigator
  • Ali Gharavi, MD. Department of Medicine, Nephrology Division, Columbia University, New York, NY, USA.