Polycystic Kidney Disease (PKD) Clinical Trials

Polycystic Kidney Disease results from mutations in the PKD1 gene (chromosome 16, accounting for 85% of cases) or PKD2 gene (chromosome 4, accounting for 15% of cases). These genes encode proteins involved in cellular structure and communication. The mutations lead to uncontrolled cyst formation and expansion within the kidney, progressively destroying normal kidney tissue.

The most common symptoms of Polycystic Kidney Disease include Flank or back pain from enlarged kidneys, Hematuria visible or microscopic blood in urine, High blood pressure, Urinary tract infections, Kidney stones, among others. Approximately 1 in 400 to 1 in 4,000 live births; affects about 600,000 people in the United States. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Polycystic Kidney Disease from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Research in PKD has advanced dramatically with tolvaptan, a vasopressin receptor antagonist, proven to slow cyst growth and kidney disease progression. Current trials are exploring complementary therapies that attack disease from different angles, targeting cAMP signaling, mTOR pathways that drive cell growth, and the inflammation that contributes to cyst progression.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Polycystic Kidney Disease. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Polycystic Kidney Disease is caused by variants in the PKD1, PKD2 and PKHD1 genes. PKD1 and PKD2 cause autosomal dominant PKD (about 10% de novo); PKHD1 causes the autosomal recessive form. PKD2 disease is generally milder and later.

It follows autosomal dominant or recessive depending on gene inheritance. Approximately 1 in 400 to 1 in 4,000 live births; affects about 600,000 people in the United States. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Polycystic Kidney Disease looks at the PKD1, PKD2 and PKHD1 genes. PKD1 and PKD2 cause autosomal dominant PKD (about 10% de novo); PKHD1 causes the autosomal recessive form. PKD2 disease is generally milder and later.

It follows autosomal dominant or recessive depending on gene inheritance.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Polycystic Kidney Disease clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Polycystic Kidney Disease clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.