The PKD Foundation, the only organization in the U.S. solely dedicated to finding treatments and a cure for PKD and improving the lives of those affected, hosted its first-ever Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting on Autosomal Recessive PKD (ARPKD) on August 29th, 2023. The objective of the meeting was to connect the ARPKD community with the U.S. Food and Drug Administration (FDA), providing regulators with direct input from patients, families, caregivers, and patient advocates. The EL-PFDD meeting marks a significant step forward in the PKD Foundation’s mission to discover and deliver effective treatments and ultimately find a cure for PKD. This progress will be documented in a Voice of Patient Report, consolidating the meeting’s findings and serving as a key reference for future ARPKD drug development efforts.

The ADPKD EL-PFDD was held virtually on August 29, 2023. The meeting was an important opportunity for the PKD Foundation to share patient perspectives regarding the symptoms and daily impact of ARPKD, as well as current and future approaches to therapies. The virtual meeting format allowed many ARPKD community members to participate through live online polls, telephone call-ins, and by providing written comments through an online portal.

One-hundred and twenty-eight viewers attended the livestream, including 13 individuals living with ARPKD, 34 parent/caregivers, nine other family members, two friends, one teacher, 16 members from the FDA, 19 scientists/researchers, seven from the healthcare industry, three healthcare providers, 18 from non-profit organizations, and six others.

This Voice of the Patient report is provided to all ARPKD community supporters including the US FDA, other government agencies, regulatory authorities, medical products developers, academics, clinicians, and any other interested individuals. The input received from the August 29, 2023, ELPFDD meeting reflects a wide range of ARPKD experiences, however not all symptoms and impacts may be captured in this report.

Read the ARPKD Voice of the Patient Report here. If you have additional questions, please reach out to

Key Meeting Insights

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder.

The clinical course of ARPKD is highly variable and can present any time from before birth to adulthood. An ARPKD diagnosis is traumatic, and consequences can be tragic. The disease is progressive and affects the kidneys as well as the liver.

Most individuals living with ARPKD experience a large number of disease-related health concerns.

Kidney failure and high blood pressure are the most bothersome, followed by liver problems including congestive hepatic fibrosis (CHF). Many patients also experience enlarged kidneys, gastrointestinal problems, fatigue, anxiety/depression, enlarged spleen, growth failure, breathing issues, immunosuppression, pain, and premature death. Signs and symptoms worsen as kidney and liver disease in ARPKD progress.

ARKPD has an incredible disease burden. The disease is progressive, and new symptoms are likely to appear.

Most children cannot fully participate in sports, school, and social activities e.g. due to fatigue and the risk of injury or pressure from their enlarged organs. Many miss out on school because of illness and frequent care appointments. Some who are living with the disease have a sense of being different and do not want to draw attention to their needs. Many find it hard to make longer term plans as their future is uncertain.

ARPKD families have many worries: disease progression leading to premature death, needing a kidney and/or liver transplant or dialysis, and worsening symptoms.

Many parents worry about their child’s uncertain future and some feel like their child is living on borrowed time.

There are no FDA-approved treatments to stop ARPKD disease progression.

Patients will do everything they can do to spare their organs. Patients rely on many off-label medications and medical procedures for symptom management, including blood pressure medications, growth hormone, dialysis, splenectomy, prescription iron supplements, bowel medications, and sleep medications. Other approaches include a low salt diet, dietary modifications, and hydration. Those living with ARPKD require a great deal of monitoring, scans, and lab tests.

Ultimately, many patients will require a kidney transplant, a liver transplant or even a combined liver-kidney transplant. The ARPKD community emphasized that transplants are not curative but a trade-off of one chronic condition for another.

Many children have received kidney and liver transplants from their parents, but donated organs have a finite lifespan and eventually need to be replaced.

ARPKD families are frustrated by the lack of treatment options.

Treatments only help somewhat or only treat some of the symptoms, and it can be challenging to tell that they are working. Most treatments have many side effects, and the amount of monitoring is excessive.

The ARPKD community needs treatments that prevent progression of kidney and liver disease, to delay dialysis and transplantation.

 The community needs symptom-reducing treatments, better treatments for those with both kidney and liver involvement, better ways to measure blood pressure, more information for patients and physicians, and more research, especially more clinical trials.

Additional Resources

Meeting organizers


Meeting sponsors


Externally-Led Patient-Focused Drug Development Meeting for ARPKD

We’re incredibly grateful for everyone who participated in the Externally-Lead Patient Focused Drug Development meeting on ARPKD. Your input and participation will 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.  

Again, thank you for your passion, participation, and commitment. 

Scientific Meeting

On January 23, 2024, the PKD Foundation invited members of the scientific community for a discussion about themes heard in the August EL-PFDD meeting and next steps for ARPKD research. See second video above for more information. The report is currently in draft and will be available late Spring 2024.


What’s the difference between ARPKD and ADPKD?

There are two types of PKD: autosomal dominant PKD and autosomal recessive PKD. ADPKD is the more common type and affects more than 600,000 Americans and 12.4 million people worldwide. ARPKD is a rare form of the disease that occurs in 1 in 25,000 children worldwide.

Why did the FDA coming to this meeting?

The PFDD initiative started in 2012 as part of FDA’s commitments under the Prescription Drug User Fee Act (PDUFA) V. After conducting FDA-led PFDD meetings, FDA recognized there are many more diseases/conditions that can be addressed beyond those that were planned and conducted by FDA.

To help expand the benefits of FDA’s PFDD initiative, in 2015, FDA announced the opportunity for externally-led (EL-PFDD) meetings. EL-PFDD meetings are planned and hosted by patient organizations, with the input of FDA staff, and use the process established by FDA-led PFDD meetings as a model. Learn more here

Who benefits from EL-PFDD meetings?

Patients: know the FDA and drug sponsors have heard their voices. Patients’ experiences are validated, reducing feelings of isolation. Hearing other patients voice their experiences and needs helps patients to better self-advocate. EL-PFDD meetings can also help to bring new treatments to the market, which benefits patients.

FDA: gains understanding of what it’s like to live with a particular disease. The FDA becomes informed of side effects and risks patients may be willing to accept to gain a certain level of symptom relief or slowing of their disease progression. The FDA learns about patients’ needs regarding new drugs, and what their preferences are for clinical trials for their disease. EL-PFDD meetings assist the FDA in knowing if a new drug addresses patient needs.

Patient advocacy groups: EL-PFDD Meetings help these groups (like the PKD Foundation) identify what needs exist for patient education and advocacy. More effective advocacy increases public awareness and knowledge of the disease. In addition, these meetings help patient advocacy groups connect patients with their peers. 

Pharmaceutical companies: gain insights into the major concerns of patients. This helps the companies develop treatments and design clinical trials that match patients’ needs and preferences. Drug sponsors learn which disease symptoms or treatment side effects are, or are not, tolerable by the patients. This helps the companies develop drugs that matter to patients. With knowledge gained from EL-PFDD Meetings, pharmaceutical companies receive advice from the FDA on developing potential drugs and therefore help to advance medicines that meet patients’ needs.

Where can I find more information about ARPKD and PKDF’s efforts to support the community?

Click here to 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.

If you still have questions, please reach out to

Page last updated February 2024