ARPKD Resources

Explore patient and physician resources, consider advancing research by participating in a clinical study, learn more about the PKD Foundation’s investment in ARPKD research, and mark your calendar for national awareness events.

ARPKD Scientific Meetings and Summits

Externally-Led Patient-Focused Drug Development Meeting for ARPKD

August 28, 2023

We’re incredibly grateful for everyone who participated in the Externally-Lead Patient Focused Drug Development meeting on ARPKD on August 28, 2023. The goal was to help the FDA make informed decisions on approvals of potential medicines for ARPKD and help pharmaceutical companies to design therapies and clinical trials that are meaningful for patients. 

The meeting brought together the ARPKD community — patients, parents, and stakeholders — to make a change. Many families and individuals bravely shared their stories because of their commitment to accelerate a cure for PKD.  

PKD Outcomes Consortium Regulatory Summit

May 19-20, 2021

The Critical Path Institute’s Polycystic Kidney Disease Outcomes Consortium (PKDOC), the PKD Foundation, and Otsuka collaborated to create the 2021 PKD Regulatory Summit on May 19–20, 2021. Together with key stakeholders from the pharmaceutical industry and academic setting, foundations, patient advocacy groups, individuals living with PKD and regulatory agencies from around the world, the consortium addressed current unmet drug development needs for PKD, identified tools that are needed to deliver new therapies to patients, and catalyzed the development of a regulatory framework to enable advancement of new treatments.

The Summit included a series of three sessions with pre-recorded webinars available for registrants to view at their own pace two weeks prior to the meeting. On May 19 and 20, live presentations summarized content from the pre-recorded webinars, followed by panel discussions with speakers to facilitate dialogue among all participants.

ARPKD Resources

ARPKD Patient Handbook

This handbook provides information about autosomal recessive polycystic kidney disease (ARPKD) and congenital hepatic fibrosis (CHF). It will be useful to children and families who have been diagnosed with ARPKD/CHF, as well as family members, caregivers, and health professionals. It is not intended for those with autosomal dominant polycystic kidney disease (ADPKD).

Parents Chapter

The PKD Parents Chapter has been serving parents of children with ARPKD and ADPKD since 2000. The PKD Parents Chapter offers support, compassion, and guidance, and helps connect families with experts and other local PKD families.

Watch ARPKD sessions from this year’s virtual PKDCON

ARPKD Clinical Studies

ARPKD and ARPKD-Related Diseases Database

The University of Alabama at Birmingham Hepato/Renal Fibrocystic Disease Core Center (UAB HRFDCC) has developed a unique set of clinical, genetic, and educational resources for ARPKD and other recessive forms of renal cystic disease. 

If your child has PKD, consider sharing your experience and helping advance research. Children’s National researchers have partnered with other PKD researchers globally to better understand pediatric PKD. No travel to a clinic is needed to participate.

Novel Imaging in ARPKD

Researchers at the Children’s Hospital of Pennsylvania are developing new ultrasound and magnetic resonance imaging (MRI) methods to measure kidney and liver disease severity in ARPKD. Participants in this study will include individuals with ARPKD, and a comparison group of healthy individuals without liver or kidney disease. Individuals of any age may take part in the study.

Novel MRI Techniques to Evaluate ARPKD Kidney and Liver Disease Progression

This study is being done to better understand how certain MRI techniques can be applied to measuring disease progression in ARPKD patients. There will be three study visits over the course of approximately two years.

A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With ARPKD

This study is being done to better understand if tolvaptan (a drug approved to slow the progression of autosomal dominant PKD) can delay the decline of kidney function in ARPKD as well. The age criteria for children in this study is 28 days to less than 18 years old.

A Study to See if Tolvaptan Can Delay Dialysis in Infants and Children Who at Enrollment Are 28 Days to Less Than 12 Weeks Old With ARPKD

This study is being done to better understand if tolvaptan (a drug approved to slow the progression of autosomal dominant PKD) can delay the decline of kidney function in ARPKD as well. The age criteria for children in this study is 28 days to less than 12 weeks old.

Receive notifications when there are clinical studies in your area.

Investment in ARPKD Research

PKDF has invested nearly $2.5 million since 2006 for research, support, education and awareness for ARPKD, ADPKD in children, and congenital hepatic fibrosis (CHF), a disease closely associated with ARPKD. The Foundation also strives to provide support through funding and collaborations in the following ways:

Dedicated ARPKD research funding


Over the past five years, PKDF has awarded biennial research grants (transitioned to annual as of 2019) to outstanding PKD researchers to increase understanding of the genetic and pathological processes involved in PKD.

Although the results of all PKDF-funded scientific projects may ultimately benefit and contribute to discoveries in PKD in children, you can read more about projects related to ARPKD here.

2023 Grants Supporting ARPKD research

  • Liudmila Cebotaru, M.D., J.D. is a researcher at Johns Hopkins University. Her project studies whether repurposing a drug already approved for cystic fibrosis might impact ARPKD.
  • Max Christoph Liebau, M.D. is a pediatric nephrologist at University Hospital Cologne in Germany. His project is seeking to identify risk markers at an early timepoint in young childhood that could help to predict the progression of liver disease in ARPKD.
  • Christopher Banek, PhD is a researcher at the University of Arizona. His project looks at the kidney’s nervous system and seeks to understand if altering the nerve connections impacts ARPKD disease progression.

2022 Grants Supporting ARPKD research

  • Katherine Dell, M.D. is a pediatric nephrologist at the Cleveland Clinic Children’s. Her project is focused on novel MRI fingerprinting of congenital hepatic fibrosis in ARPKD.
  • Charles DeRossi, Ph.D. is an Assistant Professor in the Department of Pediatrics at the Icahn School of Medicine at Mount Sinai. His project is focused on glycosylation as a regulator of liver disease in ARPKD.

2021 Grants Supporting ARPKD research

  • Erum Aftab Hartung, M.D., MTR, is a pediatric nephrologist at the Children’s Hospital of Philadelphia (CHOP). Her project is focused on intracranial aneurysms and vascular abnormalities in ARPKD.
  • Professor Melissa Little, BSc PhD GAICD, FAAHMS, FAAS is the Theme Director of Cell Biology at the Murdoch Children’s Research Institute in Melbourne, Australia. Her project is focused on in vitro modelling of ARPKD.

Donate ARPKD affected kidneys and livers

Our PKD tissue donation program helps patients contribute to the advancement of our understanding of PKD.

Representation in PKDF Scientific Advisory Committee

Made up of 14 prestigious PKD physicians and scientists, the Scientific Advisory Panel (SAP) oversees our research and medical programs aimed at discovering and delivering treatments for PKD. The SAP meets throughout the year to discuss relevant medical issues, provide guidance to our staff, and review and approve research applications for grants and fellowships in the field of PKD science. All our materials and publications are approved by SAP members, who possess the highest level of experience and knowledge in PKD clinical and scientific work.

Two current members in particular are champions in the pediatric PKD space: 

Erum Aftab Hartung, MD, MTR, is a pediatric nephrologist at the Children’s Hospital of Philadelphia (CHOP). Her research interests include ARPKD, development of imaging biomarkers of kidney and liver disease, and neurocognitive outcomes in children with chronic kidney disease. She currently serves as chair of the Research Committee of the American Society of Pediatric Nephrology, and is the Associate Program Director for the pediatric nephrology fellowship at CHOP. Dr. Hartung’s research is funded by grants from the National Institute of Diabetes and Digestive and Kidney Diseases (National Institutes of Health) and the University of Pennsylvania. Dr. Hartung is on the faculty of the Perelman School of Medicine at Penn as Assistant Professor of Pediatrics. She lives in Swarthmore, PA with her husband and two children. 

Max C. Liebau, MD, is a clinical consultant pediatric nephrologist at the Department of Pediatrics at the University Hospital Cologne, Germany, where he holds positions as Head of the Social Pediatric Center for Chronically Ill Children and Head of Translational Pediatric Nephrology. Dr Liebau combines his clinical training as a pediatric nephrologist with his experience in cellular and molecular biology obtained in the Nephrology Research Laboratories in Freiburg and Cologne, Germany and at the University of California, Santa Barbara. His group follows a translational research approach to study genetic kidney diseases with a special focus on Autosomal Recessive Polycystic Kidney Disease (ARPKD). The group aims to understand the molecular function of the ARPKD protein fibrocystin and to characterize clinical long-term courses of ARPKD as a basis for the identification of clinical and/or biochemical risk markers of disease progression. Dr Liebau initiated and is currently leading the international ARPKD registry study ARegPKD and is a co-initiator of the pediatric ADPKD registry study ADPedKD. His research is funded by the German Research Council and the German Federal Ministry for Education and Research amongst others.

ARPKD Task Force

The ARPKD Task Force was formed by the PKD Foundation Board of Directors and includes ARPKD physician scientists, parents of children with ARPKD, and executive staff members. Established to guide the Foundation’s efforts to address the important and unmet needs of the ARPKD community, the ARPKD Task Force will design a comprehensive strategy including research programming, a communication plan, and an advancement campaign with the goal of improving outcomes for ARPKD families.

Supported Scientific Meetings

PKDCON Research Symposium
June 24, 2023 in Denver, CO

FASEB – PKD: Hurdles and Advances in Molecular Mechanisms and Therapies
June 24-29, 2022 in Lisbon, Portugal 

2021 PKD Regulatory Summit
May 19–20, 2021 (virtual)

View session recordings here.

Read the resulting publication: 

Perspectives on Drug Development in Autosomal Recessive Polycystic Kidney Disease

PKD in Children Conference
May 3–5, 2019 in Chicago, IL
April 21–23, 2017 in New York City
April 5–7, 2013 in New York City
PKD Research Conference
June 29 – July 1, 2018 in Kansas City, MO
FASEB — PKD: Challenges, Differing Viewpoints and Ways Forward
June 25–30, 2017 in Big Sky, MT
American Society of Pediatric Nephrology
April 30 – May 3, 2016 in Baltimore, MD

2022 Awareness Events

Follow the PKD Foundation on Facebook, Twitter, Instagram, and LinkedIn for event updates and download and share our PKD in Children handout.


14 | National Donor Day

28 | Rare Disease Day


National Kidney Month

10 | World Kidney Day


National Donate Life Month

22 | Blue & Green Day

24 – 30 | National Pediatric Transplant Week


4 | PKD Awareness Day


National Minority Donor Awareness Month


15 | National Pregnancy & Infant Loss Remembrance Day


National Family Caregivers Month

Page last updated June 2023