Diversity, Communication and Trust: Three PPRNs Share the Recipe for Effective Engagement in Rare Disease Research

Imagine you are a patient who has just been diagnosed with primary Nephrotic Syndrome. Your doctor explains to you that this is a rare kidney disorder and then hits you with the gut punch: there is no known cause, no cure, and no FDA-approved medication for treatment. We often think of rare conditions as something that will never impact us, but the truth is that rare diseases collectively are not so rare. In fact, they impact nearly 25 million Americans according to the National Institutes of Health. Patients and caregivers impacted by rare diseases are frustrated by the lack of knowledge around these conditions and, as a result, are often more motivated than most to participate in efforts to drive research forward. It’s a rich opportunity for the research community; but how do we channel that opportunity to drive long-term engagement in clinical research?

PCORnet, the National Patient-Centered Clinical Research Network, a PCORI initiative, has made answering this question a priority. Rare diseases are well represented in PCORnet’s Partner Networks; in fact, several of these networks have a singular focus on one or more such illnesses. To fast track the sharing of lessons learned across the Network, these networks have joined forces to create the Engagement & Experience Research Group, an innovative collaborative focused on advancing the science of multi-stakeholder engagement and enhancing the patient experience in clinical care and research. The group is comprised of five PCORnet Partner Networks: ADVANCE CDRN, CAPriCORN CDRN, DuchenneConnect PPRN, Interactive Autism Network PPRN, and Phelan-McDermid Syndrome Data Network PPRN. Unsurprisingly, some common themes quickly emerged as success indicators for engaging the rare disease community: trust, diversity and communication.

Building Trust Between Communities

Those involved with Phelan-McDermid Syndrome Data Network (PMS_DN), a network dedicated to advancing the knowledge, care, and treatment of a rare pediatric disease known as Phelan-McDermid Syndrome (PMS), cite trust as the fire that fuels all effective engagement, especially for their specific patient community in which children are the primary participants.

PCORnet and Rare Disease

Learn more about how PCORnet can benefit
rare disease research.

“We have found engagement to be most effective when we leverage communities of fellow patients and caregivers to drive awareness of the research we conduct. Parents encouraging parents to engage is more effective than researchers or clinicians trying to motivate them,” said Megan O’Boyle, principal investigator for PMS_DN. “Trust is already established when you are talking to a mom or dad going through the same thing you are. When caregivers come to us and tell us that they had a positive research experience, we encourage them to share that feeling with others families.” O’Boyle also stressed what she refers to as the golden rule of all research, rare disease or otherwise: return the data.

“Patients and caregivers in rare disease communities are seldom motivated by money,” she said. “They are motivated by the need for answers. The relationship with the research community has to work both ways: if families give us their time and effort, it is incumbent on us to give them the results of the studies they have participated in.”

Putting Diversity Into Action

One of PCORnet’s youngest PPRNs and former member of the Engagement & Experience Research Group, NephCure Kidney Network (NKN), is on a quest to improve insights into the very condition mentioned above: primary Nephrotic Syndrome, a rare disease that causes the body to excrete too much protein into the urine, leading to swelling in the body and potential kidney failure. At NKN, one key to unlocking answers within rare disease communities lies in finding the right balance of diversity—and then putting that mix of diversity into action to make sure all patient participants feel empowered.

“We have found that effective engagement doesn’t just mean collecting any patient feedback—it means collecting the right patient feedback,” said Elizabeth Cope, former principal investigator for NKN and current co-investigator for ADVANCE. “For example, a patient advisory group is a great start to giving patients a voice in the research process, but we have to keep in mind that patient advisory groups only appeal to certain types of people with the interest and ability to offer a deep commitment to projects; the collective experience of this group may not be generalizable to all patients. Finding the right balance of diversity is essential for building a resource that meets the needs of its patient community at-large.”

NKN operationalized this one-size-does-not-fit-all approach to engagement by offering a buffet of study engagement options for patients to choose from. While deeper, time-heavy options were presented, such as participation in network governance, Cope and her colleagues also offered “single-touch” opportunities to increase the diversity of participant input. Additionally, NKN provides education and motivational outreach content to patients, which allows participants to see that their role in advancing rare disease research matters, even at the single-touch level.

Focusing on Effective Communication

Like NKN, DuchenneConnect (DCN), a PCORnet PPRN created to support families and advance research toward a cure to a set of rare neuromuscular disorders known as Duchenne and Becker muscular dystrophy (DBMD), believes patient empowerment and bi-directional communication between the patient community and the research community is essential. DCN uses various communication tools and tactics to open new possibilities within rare disease research and put patients in the driver’s seat.

 “Many roadblocks in clinical research, particularly rare disease research, can be attributed to knowledge gaps. We focus on those gaps, including helping basic researchers and sponsors understand unmet needs; informing sponsors and regulators about meaningful benefits and acceptable risks and burdens; and educating people with Duchenne and their families around what it means to participate in a trial,” said Holly Peay, co-principal investigator for DCN. “The more ways we find to speed the research process, clarify misconceptions, and minimize the intimidation factor often associated with clinical research, the faster we can uncover insights to help the Duchenne community.”

“The more ways we find to speed
the research process, clarify
misconceptions,and minimize
the intimidation factor often
associated with clinical research,
the faster we can uncover insights
to help the Duchenne community.”

Holly Peay– Co-Principal Investigator, DCN

One of the newest communication tactics recently unveiled by DCN is a decision tool that helps people with Duchenne and their families determine whether participating in clinical trials might be the right choice for them. This tool helps patients deliberate potential trial benefits, harms and burdens, and ultimately choose a trial that best suits their needs. The overall objective is to increase the number of people who make an informed choice to participate in clinical research.

PCORnet’s networks study a range of conditions and diseases, and effective engagement is central to every one of them. Learn more about how PCORnet is engaging networks and participants to advance clinical research and drive healthcare outcomes.

About PCORnet

PCORnet, the National Patient-Centered Clinical Research Network, is an innovative initiative of the Patient-Centered Outcomes Research Institute (PCORI). The goal of PCORnet is to improve the nation’s capacity to conduct clinical research by creating a large, highly representative network that directly involves patients in the development and execution of research. More information is available at www.pcornet.org.


The Patient-Centered Outcomes Research Institute (PCORI) is an independent, nonprofit organization authorized by Congress in 2010. Its mission is to fund research that will provide patients, their caregivers, and clinicians with the evidence-based information needed to make better-informed healthcare decisions. PCORI is committed to continually seeking input from a broad range of stakeholders to guide its work. More information is available at www.pcori.org