Learning about PKD1/PKD2 Genetic Variants in Patients with ADPKD
- Study HIC#:2000038569
- Last Updated:02/24/2025
If you are 18-65 years old, diagnosed with autosomal dominant polycystic kidney disease (ADPKD), and aren’t on or planning to begin kidney replacement therapy, you may be eligible for an observational study to learn more about ADPKD. ADPKD is most commonly caused by variations in the genes called polycystic kidney disease 1 and 2 (PKD1 and PKD2). Researchers in the study seek to understand how often different variations occur and what symptoms they cause. Participants will receive genetic testing to identify their PKD genetic variant. Participants will be compensated for study-related time and reimbursed for transportation and meals.
Contact Us
For more information about this study, including how to volunteer, contact:
Jessica Li
- Phone Number: 1-203-737-1091
Help Us Discover!
You can help our team find trials you might be eligible for by creating a volunteer profile in MyChart. To get started, create a volunteer profile, or contact helpusdiscover@yale.edu, or call +18779788343 for more information.
Eligibility Criteria
- You may be eligible if you:
- Are between the ages of 18 and 65.
- Have an estimated glomerular filtration rate (eGFR) ≥30 mL/min/1.73 m2.
- Have a pre-existing diagnosis of ADPKD.
- Exclusion criteria include:
- History of solid organ or bone marrow transplantation or nephrectomy.
- Ongoing kidney replacement therapy or planning to begin kidney replacement therapy <= 12 months from first visit.
- Documented historical genotype result that in the opinion of the investigator demonstrates at least 1 truncating variant of PKD1.
- History of kidney disease other than ADPKD that in the opinion of the investigator would independently impact the natural history of ADPKD.
