Participating in research – why PKD patient registries are important

Published June 18, 2019

We spoke with Lisa M Guay-Woodford, MD, Children’s National Health System, about the Autosomal Recessive Polycystic Kidney Disease Database and why it’s important to the PKD community.

How many children have PKD in the United States? Who will develop symptoms and when? What will their childhood and adolescence look like?

These are important questions, but we don’t have enough information to answer them. This is why patient registries are so important, especially for a rare disease like Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Registries collect observational data: real-world outcomes, medical history, and experiences from patients. They are secure databases where researchers can look at anonymized data from groups of patients to understand more about the natural history of the disease.

Registries store information about patients, such as:

  • Diagnoses
  • Symptoms
  • Medications
  • Treatments
  • Quality of life

Children’s National Medical Center, in partnership with The University of Alabama Birmingham, created a patient registry for children with ARPKD (Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource). The study team asks permission to see past, current, and future medical information from ARPKD patients, and stores this information separately from personally-identifying information.

“Patient registries provide a critical foundation for research progress, particularly in rare diseases like ARPKD, that affect relatively few patients who live all over the country. By collecting patient information into a standardized database, registries provide a powerful resource that can advance our current understanding of ARPKD and ARPKD-like diseases, reveal new information about factors that impact disease severity, and set the stage for efficiently developing clinical trials of new treatments,” said Dr. Guay-Woodford.

In addition to observing the ARPKD patient experience, Dr. Guay-Woodford hopes to improve chances for treatment development for these patients. Recruiting patients into a rare disease clinical trial is very expensive and time consuming. However, when a rare disease registry exists, this demonstrates to industry researchers that there is a need in the community.

We’ve seen this in Europe, where pediatric PKD registries have led to child-specific studies, such as tolvaptan treatment in children and adolescents (tolvaptan is the first FDA approved treatment for ADPKD in the United States but is currently limited to adults meeting certain criteria). These are important studies that could potentially impact American children with PKD.

Joining a patient registry is the first step towards increasing the patient voice in this research space and accelerating efforts towards treatment and a cure for PKD.

Most of what we know about PKD in children we’ve borrowed from studies in adults or smaller studies of children with AR and AD PKD. We need to learn more from parents about the impact of this disease on their child’s development, childhood experiences, and treatment outcomes.

If you have a child with ARPKD, consider joining this project and participating in research. This data has power!

For more information, please visit their website. You can also check out the new PKD Foundation ADPKD Registry for details on how you can help improve our research.


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