Updated: 11/19/2014

Observational Studies – Currently Recruiting






New York



Clinical Care of Autosomal Polycystic Kidney Disease: Retrospective Analysis and Prospective PKD Genotyping (ADPKD)

This is a retrospective analysis to include demographic, clinical, biochemical, and genetic data that will further explore the natural history of ADPKD. It will also assess the factors that are likely to be associated with the progression of disease and the incidence of complications, including progressive chronic kidney disease, cardiovascular disease, and cerebrovascular disease.

The goal of this project is to collect data from a large population of patients with PKD. Based upon the estimated prevalence of PKD (1:500 and 1:1000 live births), it is estimated that there may be 10,000 PKD patients in the New York City area. This sample size far exceeds any database established thus far. As many as 40% of affected PKD patients are reportedly unaware of a family history of this disease, in part because many patients may go undiagnosed until they present with a medical complication (e.g., hypertension, kidney failure). Furthermore, this initiative will provide an opportunity to compare data from racially diverse populations.

Age Group:
18 and older

New York, N.Y.

Participant Information:

  • Must be diagnosed with ADPKD
  • Need to be in the New York City area to participate

Contact Information:
Ines Chicos, CCRC


Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP II)

This is a continuation of the CRISP I study – enrollment is by invitation only. The purpose is to develop and implement studies to test whether imaging techniques can provide accurate and reproducible markers of disease progression in ADPKD patients.

Age Group:
15 - 45 years


  • University of Alabama – Birmingham, Ala.
  • Emory University – Atlanta, Ga.
  • University of Kansas – Kansas City, Kan.
  • Mayo Clinic – Rochester, Minn.
  • University of Pittsburgh – Pittsburgh, Pa.

Participant Information:
This study is enrolling participants by invitation only.

Contact Information:
Not Available as enrollment is by invitation only.


Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

To expand their comprehensive clinical database to include information from patients with hepato/renal cystic diseases.

  • To identify genetic mutations in children with ARPKD and other hepato/renal cystic diseases.
  • To establish a human tissue resource from those with hepato/renal cystic diseases for research studies.
  • To develop a comprehensive informational resource for ARPKD and other hepato/renal cystic disease Families.

Age Group:
Up to 35 years

University of Alabama at Birmingham – Birmingham, Ala.

Participant Information:

Inclusion Criteria

  • Demonstrate hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing

Exclusion Criteria

  • ADPKD urinary tract malformations
  • Major congenital anomalies of other systems

Contact Information:
Teresa J. Chacana, MSN, RN

Lisa M. Guay-Woodford, M.D. (principal investigator)


The Eurocyst Initiative: Building a Network of ADPKD Reference Centers Across Europe

EuroCYST initiative aims to build a large, well-characterized cohort of Autosomal Dominant Polycystic Kidney Disease (ADPKD) subjects who are followed in a longitudinal observational cohort study. It has the potential to identify progression factors and biomarkers, and to assess disease stage specific mortality, morbidity and health care costs.

Overall, 1,100 patients will be enrolled in 14 study sites across Europe and will be followed up for at least three years. The ADPKD reference center network across Europe and the observational cohort study will enable European ADPKD researchers to gain insight into the natural history, heterogeneity, and associated complications of the disease, as well as how it affects the lives of patients across Europe.

Age Group:
18 and older


  • Belgium
  • Czech Republic
  • France
  • Germany
  • Italy
  • Switzerland
  • Turkey
  • United Kingdom

Participant Information:

  • Biospecimen samples will be collected (blood, spot urine, and 24-hour urine)

Inclusion Criteria

  • Clinical diagnosis of ADPKD based on kidney imaging and family history
  • Estimated Glomerular Filtration Rate (eGFR) ≥ 30 ml/min/1.73m2
  • Provide written informed consent

Exclusion Criteria

  • Dialysis before or within 12 months after enrollment

Contact Information:
Andreas L Serra, M.D.
+41 44 635 51 07

Katja Petzold, Dipl.-Ing.
+41 44 635 51 07

Cliniques universitaires Saint-Luc
Yves Pirson, Prof

Czech Republic:
Charles University Prague
Vladimir Tesar, Prof

Centre hospitalier universitaire de Brest
Yannick Le Meur, Prof

Hôpital de Rangueil
Dominique Chaveau, Prof

Charité Universitätsmedizin Berlin
Klemens Budde, Prof

University Hospital Erlangen
Kai-Uwe Eckardt, Prof

University Hospital Freiburg
Anna Koettgen, M.D.

Instituto di Ricerche Farmacologiche "Mario Negri"
Giuseppe Remuzzi, Prof

University Hospital Zurich
Andreas L Serra, M.D.
+41 44 635 51 07

Istanbul School of Medicine
Tefvik Ecder, Prof

United Kingdom:
University of Cambridge, Cambridge Cancer Center
Richard Sandford, Prof

University of Sheffield Medical School Academic Unit of Nephrology Dept of Infection and Immunity
Albert CM Ong, Prof


Evaluation of Gut Bacteria in Patients With Polycystic Kidney Disease

To examine the impact of renal failure on the composition of gut microbiota, we are studying patients with renal failure due to polycystic kidney disease (PKD). PKD is the fourth leading cause of kidney failure, and is the most common genetic kidney disease. Compared to patients with renal failure due to diabetic nephropathy, hypertension, and glomerulonephritis, patients with PKD have virtually no major co-morbid medical conditions or associated medical interventions (i.e. antimicrobial or anti-inflammatory therapies) that could potentially alter the gut microbiota, and confound the interpretation of data.

Age Group:
18 and older

Icahn School of Medicine at Mount Sinai, New York, N.Y.

Participant Information:

Inclusion Criteria:

  • Diagnosed with PKD and be able to understand and give consent.

Exclusion Criteria:

  • On antibiotics or vitamin supplement (except Vit. D) in the last three months.
  • Advanced liver disease, advanced cardiovascular disease, heart failure with EF 30% and autoimmune disease.
  • Used chemotherapy, immunosuppressive medications, probiotics, steroid in last three months.
  • Used IV or oral iron supplementation, laxatives, kayexalate in last month.
  • History of intra abdominal surgery, small or large intestine resection or small bowel obstruction.
  • History of colon cancer or gastrointestinal bleed.

Contact Information:
Peter Y Chuang, M.D.

Rabi Yacoub, M.D.


PKD Clinical and Translational Core Study (PKD Core)

The Polycystic Kidney Disease Research Clinical and Translational Core (P30) aims to establish an infrastructure that will assist investigators in designing and conducting highest quality clinical and translational research focused on a diverse group of patients with ADPKD.

Objective 1: To establish a Mid-Atlantic cohort of ADPKD patients (N=200) with baseline clinical phenotyping performed at the General Clinical Research Unit of the University of Maryland School of Medicine.

Objective 2: To establish a state-of-the-art biobank of specimens from the ADPKD cohort including serum, plasma, urine and DNA.

Objective 3: To develop a collaborative network of physicians and practices in the Mid-Atlantic region who will contribute to the ADPKD cohort and will be willing to refer patients for future studies and trials.

Objective 4: To establish a web-based registry of ADPKD patients in the Mid-Atlantic area.

Age Group:
18 and older

University of Maryland School of Medicine General Clinical Research Center – Baltimore, Md.

Participant Information:

  • Biosamples will be collected and stored (plasma, serum, urine, and DNA)

Inclusion Criteria:

  • ADPKD confirmed by genetic testing or ultrasound criteria using modified Ravine criteria: With family history= several cysts per kidney (3 by sonography, 5 if by computerized tomography or MRI) Without family history=10 cysts (by any radiologic method) per kidney and exclusion of other cystic kidney diseases
  • Ability to provide written informed consent prior to initiation of any study procedures and the ability in the opinion of the investigator to comply with all requirements of the study
  • Glomerular Filtration Rate (GFR) less than 20ml/min/1.73m2

Exclusion Criteria:

  • End stage renal disease, on dialysis or have had a prior kidney transplant
  • Pacemaker and defibrillator
  • Pregnant or lactating
  • Other systemic disease (diabetes, lupus)
  • Also participating in a drug treatment trial

Contact Information:
Charalett E. Diggs, RN MSN

Karleen Schuhart


Your Organization

2000 Daniel Island Drive, Charleston SC 29492
Phone: 800.443.9441 | Fax: 843.216.6100

©2014, PKD Foundation ·The PKD Foundation is a 501 (c)(3), 509 (a)(1) public charity.

©2014, PKD Foundation ·The PKD Foundation is a 501 (c)(3), 509 (a)(1) public charity.