Pilot Study of RNA as a Biomarker for Autosomal Dominant Polycystic Kidney Disease

The aim of this pilot project is to assess the potential of urine micro-RNAs (miRNA) as biomarkers for characterizing patients with autosomal dominant polycystic kidney disease (ADPKD) compared with patients with other causes of chronic kidney disease.

Proteins and small molecules in urine (biomarkers) have been used to probe for kidney and systemic diseases for hundreds of years. Urine reportedly contains a type of molecule called microRNA (miRNAs) that regulate a large number of biological processes. Impaired function of miRNAs is now recognized in an increasing number of disease processes. In the search for new biomarkers, the regulatory function of miRNAs and the relative simplicity and precision of characterizing miRNAs, are potential advantages when compared to traditional biomarkers.

The aim of this pilot project is to assess the potential of urine miRNAs as biomarkers for characterizing patients with autosomal dominant polycystic kidney disease (ADPKD), the most prevalent inherited cause of kidney failure. Individuals with other causes of chronic kidney disease (e.g., diabetes, glomerulonephritis), who are matched for key characteristics (e.g. age, sex, level of kidney function) will serve as the control population. A technique for isolation of miRNAs from urine samples will be tailored for the specific needs of this project. Biochemical and computational analysis of small RNAs from these samples will provide urine miRNA profiles and key variability statistics that will be use to design follow-up projects involving patients with kidney disease.

20 outpatients, 20 patients control

• Chronic Kidney Disease
• Polycystic Kidney, Autosomal Dominant

• PKD
  Patients with Autosomal Dominant Polycystic Kidney Disease
• non-PKD CKD
  Patients with non-Polycystic Chronic Kidney Disease

Inclusion Criteria:

1. Male or female subject, 18 years of age or older, with diagnosis of ADPKD or non-PKD-CKD
2. If female, not pregnant.
3. Willing and able to understand and sign informed consent

Exclusion Criteria:

1. Presenting with any signs or symptoms of an infectious disease
2. Bacterial infection determined by urine culture
3. Use of systemic steroids within a week prior to screening
4. History, physical, or laboratory findings suggestive of any other medical or psychological condition that would, in the opinion of the Principal Investigator, make the candidate ineligible for the study.

• Rockefeller University
• Weill Medical College of Cornell University