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A Study to Determine the Prevalence and Clinical Characteristics Associated With PKD1 Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Status: Recruiting
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disease which causes cysts to form in the kidneys. Over time as the cysts grow, the kidneys are not able to function the way they should, and may eventually lead to kidney failure. Certain people have a higher risk of developing ADPKD due to their genetic makeup. This study seeks to understand how often different types of PKD1/2 variations occur and the symptoms of ADPKD that people with PKD1/2 variants have. No study drug or devices will be administered.
Sex: Male or Female
Age Group: Not specified
Inclusion Criteria:
• adults age 18-65
• pediatric patients age 12-17
• diagnosis of Autosomal dominant polycystic kidney disease (ADPKD)
Exclusion Criteria:
history of kidney disease other than ADPKD that in the opinion of the investigator would independently impact the natural history of ADPKD
• history of solid organ or bone marrow transplantation or nephrectomy
• ongoing renal replacement therapy or planning to start renal replacement therapy <12 months from the Genotyping Visit
Conditions:
Kidney, Prostate & Urinary, Rare Diseases
Keywords:
Autosomal dominant polycystic kidney disease, Clinics and Surgery Center (CSC), polycystic kidney disease 1 gene
Study Contact: Katti Woerner - woer0007@umn.edu
Principal Investigator: Katti Woerner
IRB Number: STUDY00023883
See this study on ClinicalTrials.gov