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In most public sectors, understanding the end user’s perspective and building out a product strategy around it is nothing short of dogma. However, in many aspects of healthcare, including clinical research, understanding patient perspectives and building around them is still a work in progress.

Jayne Helfrick
Jayne Helfrick
Senior Marketing Writer

Today, the healthcare industry widely accepts the patient voice as a critical component when it comes to developing effective clinical research programs and treatment options—but that wasn’t always the case. The legacy of most major healthcare systems that came about in the early 20th century was a system completely geared towards treating common conditions with patients as purely passive participants. That paradigm simply could not advance research for the 7,000 rare diseases we know of today, let alone the clinical research needed to pursue treatments. With each condition affecting few individuals around the world and technological limitations of the day, the barriers to progress were just too high.

The Orphan Drug Act (ODA) of 1983 marked a seminal point for rare disease clinical research, ushering in a new perspective to the way we approach healthcare as a whole. Stemming from lobbying efforts in the late 70s and early 80s, the ODA was the culmination of rare disease advocates like Abbey Meyers coming together to highlight the reality that common conditions are not the only conditions—and rare conditions would never have treatments if policy didn’t change. These advocates understood that without financial incentives, the industry would not pursue treatments for orphan conditions. They pragmatically lobbied for the things that would incentivize the industry (more favorable tax frameworks, longer patents, and protection) and the ODA was born.

The financial and regulatory incentives of the ODA also made it possible for small groups of scientists working out of universities to pursue business models for the condition(s) that they’d been researching—and the biotech industry was sparked. Henri Termeer, the legendary leader of Genzyme, is recognized for pioneering the biotech model we know today, balancing and building out how a biotech could feasibly pursue drug development for rare disorders.

Below, Laura Iliescu and Kendall Davis—PRA’s Center for Rare Diseases’ Managers of Patient Advocacy & Engagement—discuss the evolution of patient advocacy, as well as its critical role in today’s clinical development process.

How do you define patient advocacy?

Laura: There are two forms of patient advocacy. There’s the kind that each of us do, every time we interact with the healthcare system on behalf of ourselves, our family, or our friends to overcome barriers in the system. When you’re waiting for a really long time at the hospital emergency room, and you go up and explain your situation to the triage nurse to attempt to get yourself or your loved one seen faster, that is a form of patient advocacy.

Then there’s patient advocacy that is aimed at reshaping the system itself so that it works better for patients. In rare disease, this advocacy is built by bringing together the efforts and knowledge of rare disease individuals around the world so that they can interact with other stakeholders in the healthcare system like payers, life science companies, regulators, clinicians, and researchers in a systematic, strategic, and productive way.

Kendall: When we talk about patient advocacy and patient advocacy strategy at PRA, we’re talking about working with patient advocacy organizations (PAOs). PAOs organize the efforts of individuals affected by one or more rare disorders to support everything from quality of life of the community to rare disease clinical research. These organizations are a vital part of the planning and executing of clinical drug development. By partnering with advocacy groups as well as sponsors, we continually shift that paradigm to work better for patients and improve the feasibility outlook for these challenging studies.

By partnering with advocacy groups as well as sponsors, we continually shift that paradigm to work better for patients and improve the feasibility outlook for these challenging studies.

Kendall Davis, Center for Rare Disease, Manager of Patient Advocacy & Engagement

How has rare disease patient advocacy evolved over the last 50 years?

Laura: Fifty years ago, we didn’t have the internet or the genetic advances we do today. We also didn’t have the ability to connect to others and to information from around the world. Despite this, rare disease patient advocacy was already beginning to take shape. Individuals who found themselves or a loved one confronted with a rare disease diagnosis were finding ways to connect and combine their efforts to get answers to their questions, overcome immense barriers to care, and find hope in unique experiences that only another family affected by a condition could truly understand.

Over time, those constellations of individuals (because they truly are stars) evolved into structured organizations like the National Organization for Rare Disorders (NORD, est. 1983) and Parent Project Muscular Dystrophy (PPMD, est. 1994). The advent of the internet and modern-day social media has enabled patient organizations to access, develop, and share research and information about the condition they support. It’s enabled patient advocacy to connect researchers across the globe and cultivate interest in researching rare conditions. It’s enabled strong patient communities to evolve from a handful of individuals spread out across the globe. The advances of the past 50 years, some of which were catalyzed by patient organizations, have made rare disease patient advocacy groups powerful partners in the pursuit of new treatments.

Kendall: Within the last 20 years, rare disease patient advocacy organizations have become increasingly sophisticated. These groups have a great deal of knowledge about the drug development process and expertise in their rare condition. They have a greater understanding of the pharmaceutical industry, as well as the regulatory and commercial parts of the equation, and have become a major stakeholder and contributor to the process.

What does patient advocacy at the CRO level look like?

Laura: It may seem counterintuitive, but clinical research has been slow to adopt patient-centric models and practices. With CROs, as with R&D Pharma, you see a spectrum, with some having adapted and evolved more rapidly to work with patients as key stakeholders.

PRA’s Center for Rare Diseases (CRD) has always been at the cutting edge of developing ways to improve clinical research through collaboration with patient advocacy. Since its inception in 2013, the CRD has engaged with rare disease communities in meaningful and innovative ways. This has been an incredible asset in delivering hundreds of rare disease studies to date.

Kendall: Within the rare disease space, engaging with advocacy groups is vital to the development of a clinical program. The wider CRO industry is waking up to the reality that they have to grow and evolve to support collaboration between patient communities and sponsors in new ways.

PRA adopted this approach early and, as a result of years of meaningful collaboration with the rare disease community, we’ve built deep connections. Recently, PRA was the first CRO to establish an autonomous Rare Disease Advisory Committee (RDAC) comprised of highly respected rare disease advocacy leaders. The RDAC collaboratively develops innovative approaches to reshaping rare disease clinical research.

As a Manager of Patient Advocacy & Engagement, what’s the focus of your role?

Laura: It’s not a role that traditionally existed in a CRO, but it’s one that we’ll certainly see more of. We work collaboratively with sponsors and patient advocacy groups to enhance the feasibility of rare disease clinical trials. This involves developing and implementing strategic engagement with both of these stakeholders around a number of key milestones of a clinical program. The type of strategic engagement takes different forms depending on the unique aspects of each study, the dynamic of the patient advocacy community in the condition, the sponsor’s goals, and patient advocacy expertise and capabilities.

Kendall: This collaboration brings immense value to de-risking a clinical program in the rare disease space—from identifying the right trial sites and trouble-shooting costly protocol amendments to supporting recruitment. Sponsors are also becoming increasingly aware of this and looking to their CRO to provide expertise and support in developing a strong advocacy strategy for their rare disease studies.

Many sponsors find themselves lacking the expertise, understanding, confidence, or bandwidth to navigate the collaborative aspects of working with patient advocacy groups—but that certainly doesn’t mean their clinical research has to reflect that. That’s where we come in. We’re here to supplement our sponsors’ expertise and support the success of their study.

We look at how a sponsor can build an effective strategy to leverage the power of patient organizations within their clinical programs. We then work collaboratively with the sponsor and patient organizations to implement that strategy. This includes all the different ways patients and patient advocacy organizations can be a part of clinical research, from initial engagement on study design and protocol development to co-creating recruitment strategies.

Laura: We also see sponsors come to us with a study that was initiated by another CRO partner, but hasn’t met its recruitment milestones and is in peril. This is known as a “rescue study.” When a rare disease study isn’t thriving, it’s an immense lost opportunity for both the sponsor and the patient community. The sense of urgency in these cases requires us to build collaboration between all stakeholders rapidly to tackle barriers and the CRD’s deep connection to rare disease communities is a huge advantage.

How does the work that patient groups are doing directly impact rare disease research?

Laura: Rare disease patients truly are the experts in their own conditions. Understanding what’s important to patients and what their risk-benefit analysis looks like can be extremely nuanced from one condition to another. It’s hard to de-risk the feasibility of your study if you don’t know the unique elements of the patient experience that may compromise feasibility down the road. If you’re not deeply engaged with the patient community as you develop your study design and protocol, you can easily miss something small that could have important consequences for the fate of your rare disease study.

But it isn’t just the small things. Sponsors are often unaware that patient advocacy groups can be a great resource for determining where optimal trial sites would be for a study because they know where the patient populations are located. It’s really important for trial sites to align as closely as possible to the sites that patients are most amenable to going to or geographically close to. Patient advocacy groups often have a sense of where that is.

PAOs can also help sponsors identify which clinicians patients are most willing to work with, which sites are most convenient, which endpoints are important, and which parts of the protocol might cause unexpected problems.

Kendall: Patient organizations are a critical partner throughout the entire development process. We encourage sponsors to work with organizations on everything from protocol development to regulatory approval, and everything in between. Finding unique ways to work with patient organizations is so valuable. For example, we encourage sponsors to bring patient organization representatives to investigator meetings so that PIs and study teams have the opportunity to talk directly with someone from the community about issues they might face. This gives everyone who’s involved at that meeting the opportunity to understand the patient perspective, as well as how to most effectively communicate with that community, which we believe leads to higher rates of recruitment and retention.

If you’re not developing a protocol with patients in the rare disease space, you’re not only increasing the risk of losing time and money, you’re leaving a key competitive advantage on the table.

If you’re not developing a protocol with patients in the rare disease space, you’re not only increasing the risk of losing time and money, you’re leaving a key competitive advantage on the table.

Kendall Davis, Center for Rare Disease, Manager of Patient Advocacy & Engagement

How do you see patient advocacy evolving in the coming years?

Kendall: Rare disease advocacy is a unique type of advocacy. It tends to look very different than advocacy in spaces such as oncology or hematology. However, there are some underlying commonalities and it is evolving into a critical part of the drug development process. Regardless of whether a sponsor is a small biotech company who has been talking to a patient organization since they were in the discovery phase or a large pharmaceutical company that has hundreds of therapies for non-rare and rare conditions, clinical research is heading in a direction that prioritizes partnering with patients. Effective collaboration is a key success factor.

From an organizational standpoint, patient advocates are becoming much savvier, and they’re positioning themselves as indispensable assets. I think what we’re seeing now is a shift from people thinking it might be nice to get a patient perspective to the inclusion of patient input becoming a non-negotiable in drug development—and this is amazing!

Do you have questions about patient advocacy involvement in clinical research? Email us at

At PRA’s Center for Rare Diseases, we’re evolving clinical research to keep pace with the increasingly sophisticated role that patient advocacy plays in supporting the development of treatment options.

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