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A Patient-Driven Registry Focused on Health-Related Quality of Life Data

June 29, 2023

Patients may be the experts on their own conditions, but data that captures health-related quality of life is often underutilized in research. The PKD Foundation is working with IQVIA to create a registry of patients with autosomal dominant polycystic kidney disease, a rare kidney condition. The ADPKD registry focuses on patient-reported, health-related quality of life data. The organization believes the registry will not only provide new insights into the condition but help with the design of efficient clinical trials and accelerate the development of new treatments. We spoke to President and CEO of the PKD Foundation Susan Bushnell, Vice President of Research Programs at PKD Foundation Elise Hoover, and Senior Director of Global Strategic Planning for IQVIA’s Integrated Health Practice David Voccola, about the new registry, how it is leveraging technology to enable patients to drive insights into their condition, and the challenges it needs to overcome.


Daniel Levine: Susan, Elise, David, thanks for joining us.

Susan Bushnell: Thank you for having us today. Yeah, great to be here.

Daniel Levine: Absolutely. We’re going to talk about the rare kidney condition, ADPKD, the PKD Foundation’s development of a next generation registry, and how this will facilitate clinical trials. Susan, perhaps we can begin with ADPKD. For listeners not familiar with the condition, what is it?

Susan Bushnell: Okay. ADPKD is a genetic disease that impacts multiple generations over decades. Cysts grow in the kidneys in number and size, often damaging the kidneys leading to kidney failure. It’s not just a disease of the kidney, though. It can impact the liver, cardio system, and increased risk for brain aneurysms. It can also greatly impact the quality of life of those living with PKD through pain, fatigue, mental health, and mobility.

Daniel Levine: How does the condition manifest itself and progress?

Susan Bushnell: Absolutely. As I just shared, it progresses over decades. We often talk about how a typical kidney is the size of a fist, and for those living with PKD, the cysts grow and can often lead to the kidney growing to the size of a football. So, it is definitely a disease that progresses over time.

Daniel Levine: How is the condition generally diagnosed?

Susan Bushnell: It’s actually diagnosed by imaging, when cysts start to appear in the kidney. Genetic testing is also available, but it’s not widely used in our registry. Only 12 percent report having a genetic test for ADPKD.

Daniel Levine: And in general, what’s the prognosis for someone diagnosed with this condition today?

Susan Bushnell: Ultimately, most patients experience kidney function decline and increasing kidney size. As I mentioned, the average kidney size of a fist for ADPKD kidneys can grow to be the size of a football. One treatment on the market helps slow progression, and delays the need of dialysis or transplant by a few years, depending on how far along they are when they start.

Daniel Levine: And in general, how effective are existing therapies?

Susan Bushnell: Currently there is no cure for ADPKD and the research pipeline is sparse. There’s a great need for treatment to stop or reverse progression, so getting patients into clinical trials is vital.

Daniel Levine: Let’s bring Elise in here, Elise, you’re vice president of research programs at the PKD Foundation. What does the therapeutic pipeline look like?

Elise Hoover: Yeah, unfortunately, we’ve had, in a row, where later phase clinical trials in ADPKD were terminated. So, as Susan said, the pipeline’s pretty sparse. But the good news is that we’re seeing new researchers getting into the disease space every day, and they’re coming from new institutions and new parts of the country that we haven’t seen historically. So we’re very hopeful. We’re going to have some great minds thinking about new treatments in the future.

Daniel Levine: You say there were programs that were terminated. Was this because of clinical failures? Was it because of business decisions?

Elise Hoover: I would say a mixture of both.

Daniel Levine: As the organization thinks about its research strategy, what can it do as a patient group to lay the groundwork for advancing therapeutic development as quickly as possible?

Elise Hoover: Sure. I mean, first and foremost we have to get patients into clinical trials. But it’s not just about numbers. It’s about making those opportunities accessible. So, we are here to talk about our ADPKD patient registry. You know, when we launched this in 2019, our original intent, one of our main goals, was to use an actual trial recruitment tool. So, we have the ability to understand where our participants are in their disease journey and tailor clinical trial and clinical study opportunities to them. So, we’re only sharing information with them about studies that are relevant to their disease and we’re also sharing information like what participation looks like and what the commitment is for them to really make sure they’re making informed decisions about that opportunity.

Daniel Levine: How much of a challenge is finding patients to participate in clinical trials? Is it just a matter of knowing where the patients are, of having adequate numbers, or are there other issues about getting people to the clinical trial site and things like that?

Elise Hoover: Sure. There’s definitely a combination. In a rare disease like ADPKD that impacts, you know, maybe 600,000 folks in the U.S., the FDA gives us a little bit of room to recruit smaller clinical trials to prove that those therapy may work, but there’s definitely [issues] for individuals getting to a clinic during a workday when the study hours are available or taking time off work, paying for transportation—never mind the risks and benefits to taking an investigational therapy. So, there’s definitely a lot of informed decision making that goes into it.

Daniel Levine: You mentioned the registry. Who owns the data and who determines who can access that data?

Elise Hoover: Sure. The PKD Foundation owns the data. We do not share ownership of our participants’ data with any partners. But what’s really exciting is that we’re building a data sharing portal this summer so that anyone with an ADPKD research question can see summaries of what we’re collecting. And the goal is that if they seek those data available that can answer their research question, then they can create more formal requests to access the detail. And I want everyone to know that any detailed data we provide to our partners, to researchers, is de-identified. There is no way they can identify you from the data they receive for the research.

Daniel Levine: Well, let’s bring David into this. David, we’re now able to capture and integrate health data from a variety of sources and capture real world data. How is technology changing the data we can gather and how we can put it to use?

David Voccola: Yeah, thanks. We’re absolutely entering the era of, I’d say, patient empowerment and healthy interoperability. But that doesn’t mean there aren’t still elements of the Wild West when it comes to data access, understanding when and how to leverage these advancements for research and for advocacy. I will say this is a place where the U.S. federal government deserves a lot of credit. We’ve actually had the technologies and even the quote unquote new data standards we need to accomplish this moment for roughly a decade. But progress, as many of us know, is glacial. Really up until the passage of the 21st Century Cures Act in 2016 and the subsequent rulemaking in 2019. And since then, things have been moving so fast that I would argue that most patients in America, and even some patient organizations, don’t fully realize the extent of their newfound powers. Now, I don’t blame them. We had a global pandemic to contend with. So, it’s really only nerds like me who’re paying close attention. But to finally answer your question, we’re living through this rapid transition from registries collecting what I would call pinhole patient data to registries collecting more of a panoramic patient data all while trying to make the registry experience more patient-centric and passive. The key alliteration wasn’t intentional, but maybe I’ll make things easier for people to remember.

Daniel Levine: As you think about the challenges, what are the biggest ones? Are they a matter of ensuring data quality or ensuring regulatory compliance? Or are they things like standardizing data from disparate sources?

David Voccola: I mean, in some ways the data challenges are the same as they’ve always been. Patient reported information often doesn’t hold the weight it deserves without clinical verification and the clinical data itself is often only as good as the documentation standards in that specialty or that care setting. But there are two big important differences now. And the first is that we can access most of the clinical records for an individual in essentially the raw form, even those unstructured notes and problematic data from the past, thanks to those federal mandates and the widening use of a health data standard called HL7 Fire. And that increased volume and the standardized ways of describing and receiving the data, actually makes it much more straightforward. It’s not easy yet, but it’s much more straightforward to set up those data ingestion and quality assurance and harmonization pipelines that are actually now reusable across different data sources and clinical locations, which was definitely not the case for any of the decades since electronic medical records came on the scene. But the second is that that federal patient access rule enables patients and official caregivers to directly access their medical records that in many cases, most or all the places that they receive care, their loved ones receive care, and to authorize a registry to access those same records on their behalf. So, that means we’re no longer limited to a specific network of sites or clinicians that are willing to participate in research. We can actually go directly to the patients and their caregivers. And that means that the active consenting and the active linking across all these different data sources that used to be really problematic is also significantly more straightforward today.

Daniel Levine: We hear the term next generation thrown around a lot these days. What makes this registry next generation?

David Voccola: I’d say that traditional registries, you know, dating all the way back to Dr. Codman’s end results cards in the early 1900s, they were designed to capture very specific information, typically from a very specific data source or two, and to answer very specific questions. And in patient registries that has meant being limited to information that you can essentially convince a patient or a parent or a clinician to enter into a form. And that paradigm didn’t change when those forms went from being on paper to being online. Today’s next gen registries are designed to be far more agile and organic in that pursuit of knowledge. So, from a technology perspective, they’re borrowing heavily from the advances that we’ve seen in health interoperability, but also real world evidence generation. And that’s enabling them to acquire both active and passive data across different modalities and time points, and then to harmonize that into a full care journey that can be used to answer an evolving set of questions over time. So, it really has just totally flipped the script to the point where we probably shouldn’t call them registries anymore since they don’t totally meet the definition.

Daniel Levine: With regard to the ADPKD registry, what’s IQVIA’s role? Are you merely a technology provider, or do you do more than that?

David Voccola: I mean, I know it’s a bit of a cliche, but we truly see ourselves as partners to the foundation. Yes, we have amazing technology, but Elise and I know that technology alone is not enough. So, we collaboratively designed the registry experience. IQVIA subject matter experts are presenting right alongside Elise and the team to the Foundation’s other advisors, to stakeholders, to partners. And all of the data that IQVIA helps acquire on behalf of the participants is used solely for advancing the Foundation’s goals. So, I’d like to think that we’re a bit more than just the technology provider, and looking forward to many years of working together.

Daniel Levine: Do you have responsibility for things like compliance or privacy law compliance, or biomedical ethics?

David Voccola: So, it’s another place where we are collaborators. Depending on the regions that we operate in, we certainly serve as the principal data holder and take responsibility for the security of that data and how it’s accessed. But then the Foundation has all the wraparound governance equivalents that are necessary to make good decisions about which stakeholders receive access to which data, how that data gets used for research purposes, et cetera. And so, it’s very much a collaborative effort where we are responsible for many of the nuts and bolts of infrastructure security. But data usage and data governance is a shared responsibility.

Daniel Levine: How expensive an undertaking is this for a patient organization to do, and what does it take for them beyond funding to have the pieces in place to collect this type of data?

David Voccola: It’s a great question, and it’s one that’s really been changing. So, by my estimate, the cost of putting together an infrastructure like this has reduced by a factor of four or even five over the past 20 years. That doesn’t mean that it wouldn’t be considered a large investment for most nonprofit organizations. Thankfully that reduction in costs over the past couple decades has been mirrored by an increase in the size and scope of nonprofit partnerships with primarily the life science organizations that are operating in their communities, to the point now where the foundation has done this as well as everyone else we work with, they’re thinking about these investments in business case terms that can be used to raise money from stakeholders who will benefit from the data and the access to the community. And they want to make sure that this investment is sustainable over the long run. And the same goes for staffing and expertise. At the outset, you can rely on folks like IQVIA to bootstrap things, but over the medium to long term, organizations are bringing that expertise in-house so that they have at least a small team of folks who deeply understand what data is in the registry and how it aligns to the mission.

Daniel Levine: These types of registries require constant engagement from the patient population. I know you’re working with a number of nonprofits. What’s the biggest challenge they face in making this type of registry both robust and successful?

David Voccola: We’re absolutely fortunate to work on dozens of these kinds of programs with some of the smartest and most passionate nonprofit staff in the world, present company included, of course. I would say the funding used to be the biggest challenge. Now it’s definitely strategy. The world has changed so much in such a short span of time that nonprofits that have operated the same way for many years are finding it very challenging to break down those internal silos and reorient their missions and how they engage with their populations and develop programs in a way that actually leverages these new capabilities. So, it is certainly more than just coming up with clever ways to get in front of the right folks or forming partnerships with key opinion leaders. It’s actually a full strategic realignment at the management and organizational level to put in action that patient centricity that we’ve all been talking about, but didn’t have the tools for implementing.

Daniel Levine: Elise, one of the things you’re hoping for researchers to understand is the factors influencing disease severity. What’s known about that today, and is there specific data you’re collecting that you hope will shed light on this?

Elise Hoover: Sure. Well, the main clinical outcomes around disease severity are things like how long it takes someone to progress to a certain stage of kidney failure, the age they are, where they reach kidney failure, how long it takes to grow the kidney big enough to start to damage the tissue. So, there’s a trend here, it’s that it takes time, even decades, for this population to really understand disease severity and those factors. So, that’s why a tool like our registry that has the ability to follow folks over long periods of time is so important.

Daniel Levine: One of the things included in this is patient reported health related quality of life data. Why is that important to include?

Elise Hoover: Quality of life data is important to include because it’s something that our patient community has identified as important. And when we think not only about research, but about ultimately care in the clinic, we need the data from the registry on quality of life so that we can elevate it with clinicians, our community experiences, as Susan mentioned before, pain, fatigue, mobility issues. Of course, there’s mental health that goes along with having a genetic disease you can pass along in your family. So, really understanding what those impacts look like and who are most at risk is really important for being able to provide interventions when they’re at their doctor.

Daniel Levine: And what’s the burden on patients who are participating in this registry? What do they need to do and how often do they need to do it?

Elise Hoover: Our hope is that burden is low, and that participation is relatively easy. The registry is online and it automatically configures to screen size. So, you can participate on your phone, on your computer, on your iPad. We ask folks to log in once every three months or so. We either ask them to answer new modules and new survey questions or update previous surveys to tell us about how their disease is progressing. And what we do is we send them reminders in their email, but we also look for ways to return value so they feel motivated to keep participating over time.

Daniel Levine: So, is that in the form of sharing findings with them or something?

Elise Hoover: Absolutely. Yeah. We have an annual impact report we create every year. We have quarterly newsletters where we bring together what we’re learning from the data, and then also a new feature we’re launching is a care summary. So, we bring together some of the trends we see from their surveys and from their health records, and we give a little bit of context for why that might be an important conversation to have with their doctor. We don’t interpret anything in their data, but we highlight things that are important in PKD. As Susan mentioned before, this isn’t just a disease of the kidney. It impacts the liver, the brain, the cardiovascular system. And so, if we can highlight certain things that will help them ask the right questions at the clinic, we think it’s going to be a great way to return value.

Daniel Levine: My understanding is this is also a condition that impacts a non-white population at a greater prevalence than a white population. What are you doing to get participation in communities that have been traditionally underserved and maybe even distrusting of sharing such information?

Elise Hoover: Absolutely. Well, that is absolutely a reality of our community. And we of course want to make sure that in our research tool we are gathering a representative sample of our community. But the registry is a tool of the larger foundation. So, really when we think about increasing participation, we take a step back and think about how can we not only encourage them to participate in our programs, but provide resources to everyone in our community, especially those who are experiencing any health inequities or disparities. So, the Foundation has some great programs. We have outreach ambassadors, which are a great group of volunteers of color, and we also have community engagement grants at the local level. Those are initiatives of excellence that target health inequities around awareness and education. And then we are also translating our materials and our registry into new languages. So, there’s definitely a lot of different directions that we’re coming at it from, but we hope that we are slowly reaching a broader and more diverse community.

Daniel Levine: There are different forms of PKD and other forms of kidney disease. There are also conditions that may share some of the symptoms people with ADPKD have. Are you doing anything to look across a broader set of data to gain insights?

Elise Hoover: Absolutely. We realize that a lot of people experiencing similar impacts, and autosomal recessive PKD is another part of our community who was not included in this registry. And what we’ve done is partner with other researchers. We know we’re doing that work. You know, there’s no need to recreate the wheel. So, there’s a fantastic registry out of Children’s National Hospital in DC that’s looking at autosomal recessive PKD. Of course, the National Kidney Foundation has a patient network that is also a registry. And so what we do is we collaborate with our partners. We do our best to make sure we can harmonize our data and we support each other instead of competing in the space.

Daniel Levine: President and CEO of the PKD Foundation Susan Bushnell, Vice President of Research Programs at the PKD Foundation Elise Hoover, and Senior Director of Global Strategic Planning for IQVIA’s Integrated Health Practice David Voccola. Thank you all for your time today.

Elise Hoover: Thank you so much, Daniel.

Susan Bushnell: Thank you.

David Voccola: Thanks for having us.

This transcript has been edited for clarity and readability.


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