Rare Community Profiles: PKD Foundation and IQVIA Partner to Create Next-Gen ADPKD Registry

Rare Community Profiles

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Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

PKD Foundation and IQVIA Partner to Create Next-Gen ADPKD Registry

Patient registries are unique tools that can be utilized to improve disease understanding, advance research, and improve patient care and outcomes. These registries are databases which collect varied patient information: disease outcomes, biomarkers, quality-of-life (QOL) data, information on disease progression, symptoms, lifestyle choices. Participants within registries may also be recruited for clinical trials or other forms of medical research. In short, these registries can be incredibly crucial resources to leverage data in ways that benefit patients.

The PKD Foundation and IQVIA recently partnered to launch a next-generation registry centered around autosomal dominant polycystic kidney disease (ADPKD).

The ADPKD Registry will combine patient-reported data to develop a stronger understanding of the association between ADPKD and quality-of-life. Through collecting and synthesizing this data, the ADPKD Registry offers the opportunity to change outcomes—and potentially the treatment landscape—for people living within this disease community.

Recently, IQVIA’s David Voccola, and PKD Foundation’s Susan Bushnell and Elise Hoover, shared more information about this registry and why they feel it will be so impactful for patients living with autosomal dominant polycystic kidney disease.

What is Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of polycystic kidney disease (PKD), a genetic disorder in which fluid-filled cysts grow in the kidneys. These cysts can damage kidney function; ADPKD is the fourth most common cause of kidney failure within the United States and over half of all patients require kidney transplantation in their 50s.

PKD1 or PKD2 gene mutations cause ADPKD. As the name suggests, it is inherited in an autosomal dominant pattern—meaning patients must inherit only one mutated gene to have this disease. ADPKD affects 1 in every 400-1,000 people; however, it is still somewhat unknown, so more research is needed.

In many cases, people living with ADPKD are asymptomatic until the cysts grow exponentially. Symptoms of ADPKD can, but do not always, include:

  • High blood pressure
  • Headaches
  • Abdominal, flank, and/or back pain
  • Hematuria (blood in the urine)
  • Kidney stones
  • Urinary tract infections
  • Abdominal distention
  • or liver cysts
  • “Fluttering” or pounding in the chest

There is only one therapy on the market to slow progression. Otherwise, treatment currently focuses on symptom management. These treatment options may include pain medication, blood pressure medication, antibiotics, lifestyle changes, surgery, dialysis, or kidney transplantation.

Developing the ADPKD Registry

Susan Bushnell, the President and CEO of the PKD Foundation, notes that in 2019, the PKD Foundation launched the first iteration of the ADPKD Registry, a patient-centered program which has evolved into a valuable research tool that allows the Foundation to connect with people with ADPKD across the country.

The Foundation partnered with IQVIA to launch the next-generation registry this year. Says Susan:

“The trust of our community is so important to us. We want them to trust us with their data and that we’ll make it accessible in a way that protects their privacy and shows that we’re listening to them and their needs. IQVIA helps us fulfill those promises.”

David Voccola, Senior Director, Global Strategic Planning | RWTS Integrated Health Practice, adds:

“While IQVIA is well known for its global life sciences leadership, our mission is wider: We want to drive healthcare forward, improving patient outcomes through innovation, technology, and the advancement of medical treatments. The members of IQVIA’s Integrated Health Practice, of which I’m a part, each embody that ethos, serving as technology and expertise liaisons supporting our health non-profit partners and the real-world research they are trying to accomplish — often in collaboration with life science companies. The PKD Foundation is a thought-leader and ideal partner. Together, we believe this registry will be not just a success for the ADPKD community, but also a model for the next generation of engaging patients in advancing care.”

Why is a patient registry so important for PKD and understanding ADPKD? What kind of data can be discovered and how can this data impact treatment, care, and research?

As described above, while ADPKD is the more common form of polycystic kidney disease, there is still much that can be better understood about this condition. Says Susan:

“ADPKD is a chronic lifelong illness that typically progresses over years to decades. Longitudinal data is useful in tracking this progression and learning how progression may look different to different people. Creating the ADPKD Registry allows us to have a database of this information that is valuable for researchers, can accelerate clinical research, and can inform the creation and implementation of care guidelines within this space.”

Given changes to the technological and regulatory landscape, patients are becoming more empowered to share access to care data. The ADPKD Registry will leverage this harmonization between different sources of patient-mediated data. David explains:

“Thanks to the 21st Century Cures Act, patients are now entitled to easily access their clinical data from thousands of electronic health record systems [EHRs] across the country. And just as importantly, they can share this access with organizations they trust, such as patient organizations and researchers. The Foundation is leveraging this new patient superpower to enable the ADPKD community to augment their reported health experiences and outcomes to include relevant clinical information that can be used to verify or contextualize their reports. In the future, the Registry has been designed to allow the Foundation to expand into additional patient-mediated health data types like medical imaging and clinical genomics, incrementally adding value and data types over time.”

What data is being collected in the registry? How many patients will contribute?

Currently, there are over 2,700 people with ADPKD who joined the initial registry. As Elise Hoover, the Vice President of Research Programs at the PKD Foundation, explains:

“The registry contains many patient-reported outcomes. We also have seven internally created modules about the disease experience that were created using input from the community, as well as two validated outcome tools.”

Elise explains that the next-generation registry is expanding the current program to better meet and empower patients where they are. She says:

“With the registry, we’re not limited by a select number of research centers. We can see and engage with any patients throughout the United States as long as they have access to the portal. There is no limit on how many people we want to enroll. We hope that anybody living with PKD will sign up.”

If you have ADPKD and are interested in signing up for the Registry, you may do so here. When you register, you will be asked to provide the following information:

  • Symptoms and how these symptoms affect your work and daily life
  • Kidney function lab tests, imaging scans, and genetic test results
  • Historical information about family history, symptoms, medication, and your diagnosis

While you may choose to answer all of the survey questions (or some or none), you may also choose not to provide specific medical information. The ADPKD Registry complies with HIPAA guidelines.

Why is understanding health-related QOL data so important? How can that be used to transform the care and treatment landscape for patients?

Patients are the experts in their conditions—and often have a strong understanding of how their disease is affecting their quality-of-life. That being said, there is a general lack of incorporation or appreciation of health related QOL data in research. In clinical trials around ADPKD, we see this when symptoms like pain and mobility issues are not considered poor outcomes. So, shares David:

“Empowering patients to share QOL data — and to supplement it with other forms of patient-reported information and relevant clinical data from their care records — helps the ADPKD community be more precise in both the outcomes they’re experiencing in daily life and the potential relationships between those outcomes and other factors, such as therapies, comorbidities, and even social determinants. But we also want the registry to help individual participants on a more tangible level. That’s why we’re building in pre-visit planning tools that support patients and caregivers with remembering and organizing the important QOL data that often gets underreported, such as pain experienced over time. This not only improves communication between participants and their care teams, but also ensures that information is more accurately reflected in clinical documentation.”

Will this database explore barriers to care within the ADPKD population? If so, how can this data be used to find and enact solutions to these barriers?

Barriers to care mean any sort of barriers or obstacles that prevent people from receiving adequate or good-quality healthcare. For example, financial burdens, insurance, poor health literacy, a lack of local specialists and/or a certain geographic location, and even racial or ethnic stigma within the healthcare community may all prevent people from getting appropriate care.

In terms of ADPKD, Susan notes that patient-reported data includes insights on healthcare access through an annual model. As such, she says:

“We can better understand what patients go through to grapple with misdiagnosis and underdiagnosis, both of which contribute to health inequities within this community. However, the PKD Foundation believes that the ADPKD Registry can overcome barriers to care. One of the benefits that comes from a direct-to-patient approach is that you’re not limited to access or social determinant information that could be mistranscribed. We can supplement clinical information that can be precisely focused on barriers to care, as well as link out to population-level data to see, from at least a geographic perspective, if we’re reaching people from underserved populations. This can also be used to optimize our approaches for better efficacy in the future.”

Ideally, what additional research would be beneficial for better understanding or improving care for PKD / ADPKD?

Elise is excited about the accessibility of the ADPKD Registry, which allows patients to contribute their data from home without having to go to a clinic to share their health journey. As the Registry continues to develop, Elise hopes that the PKD Foundation can gain a deeper understanding of the patient experience. She explains:

“Tracking pain, emotional distress, fatigue, and other symptoms allows us to learn more about what is important to these patients. You’ll never know how to care for individuals and create meaningfully impactful therapies without understanding their disease journey.”

Susan agrees, identifying her future research interests as those focused on symptoms and disease progression:

“I want to see research into how disease-modifying treatments impact pain or what the good predictors of risk are for early loss of kidney function.”

David hopes that the partnership between IQVIA and the PKD Foundation, and the ADPKD Registry itself, will overcome barriers to care and focus, in a granular way, on diversity, equity, and inclusion:

“We need to acknowledge that the Registry will have some natural blind spots. But this creates an opportunity to understand more detailed information on barriers to care, differences in standards-of-care, and which populations we’re not yet able to engage. This can help direct future collaborations to bring underserved populations into the light.”

About the PKD Foundation

The PKD Foundation is the only organization in the United States solely dedicated to funding treatments and a cure for polycystic kidney disease (PKD). The PKD Foundation funds research, education, advocacy, support, and awareness on a national and local level. Since 1982, they have proudly funded more than 1,300 research projects and leveraged $1.5B in research funds, making it the largest private funder of PKD research. The foundation funds basic and clinical research, nephrology fellowships, and scientific meetings with a simple goal: to discover and deliver treatments and a cure for PKD. Learn more about the PKD Foundation here.


IQVIA is a leading global provider of advanced analytics, technology solutions, and clinical research services to the life sciences industry. IQVIA creates intelligent connections across all aspects of healthcare through its analytics, transformative technology, big data resources, and extensive domain expertise. IQVIA Connected Intelligence™ delivers powerful insights with speed and agility — enabling customers to accelerate the clinical development and commercialization of innovative medical treatments that improve healthcare outcomes for patients. With approximately 85,000 employees, IQVIA conducts operations in more than 100 countries. At IQVIA, we recognize that patient organizations are critical stakeholders in healthcare. Patient organizations possess direct relationships with patients and caregivers, allowing them to capture key voice of the patient and insights. IQVIA empowers patient organizations to accelerate advancements to improve patient outcomes and quality of life. Through comprehensive, tailored advisory support, technology and data solutions, and long-term strategies, we enable our clients to achieve their organizational health data and treatment outcome goals. Learn more about IQVIA here.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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