A rare disease, by definition, affects fewer than 200,000 individuals in the United States. But combined, up to 30 million Americans have a rare disease, and most conditions are poorly understood. That combined burden is why one of PCORI’s six multi-stakeholder advisory groups is the Advisory Panel on Rare Disease.
We sat down with advisory panelists Scott Berns, MD, MPH, and Matt Cheung, PhD, RPh, to discuss the importance of rare disease research and PCORI’s role in it.
PCORI: We could devote hours to telling your family’s story. Could you give our readers a primer?
Scott Berns: Sam was our only child and he was ultimately diagnosed just before his second birthday with a very rare genetic condition called Hutchinson-Gilford Progeria Syndrome, or Progeria. My wife, Leslie, and I are both physicians; she’s the physician-scientist and I’m more the clinician with a public health bent. We were faced with a situation—roughly one child born each year in the US has Progeria—where we were told our son had a certain outcome and there was nothing anyone could do about it. We couldn’t accept that.
We started The Progeria Research Foundation to find the cause, treatment, and cure. My wife is the volunteer medical director and I’m the volunteer Board chair. Over the years, we’ve made tremendous progress. Mainly thanks to my wife and her extended research team, including her colleagues at the National Institutes of Health, we discovered the gene responsible for Progeria in 2003. Since then, we’ve had the first successful treatment trial, and we have the potential for a cure in our sights, maybe even in our own lifetimes.
Sam passed away in January of 2014 at the age of 17. The way we honor Sam is we keep doing the work. I know there were folks who wondered what might happen to The Progeria Research Foundation after Sam’s passing, and the answer is we’re more committed now than ever.
Your background is in pharmacy. How did you become interested in rare disease research?
In 2012, I attended a conference where between sessions, patients, parents and advocates talked about their experiences with rare diseases. I was especially inspired by a woman from China named Yi-Ou Wang. She has osteogenesis imperfecta, a rare disorder which affects bone formation and leads to frequent breaks and short stature. Yet, she completed multiple degrees, including law, and created China Doll Center for Rare Disorders, an advocacy organization to destigmatize rare diseases and raise funds. She played an important role in getting the Chinese government to increase funding for research.
I was looking for ways to give back based on my training in pathology and experience in research during my retirement. I thought during the conference, ”Even though I am not directly affected by rare disease, this could be an area I can contribute.” I really was just struck by the personal stories of people with rare diseases and their courage to find treatments against all odds.
How is PCORI positioned to make an impact on rare disease research?
PCORI is unique in its patient centeredness and the multi-stakeholder approach it uses in everything it does. This makes sure everyone’s interests are considered. A final decision might not always meet everyone’s needs, but it considers them and addresses as many as possible, which leads to research that is more meaningful and implementable than it would otherwise be.
Successful rare disease organizations have set examples of how excellence in engagement led to extraordinary results. Stakeholders drive the research agenda—Scott [Berns], his wife and their son, Sam, are one of many amazing examples—because the rare disease drives the patient and the family to be very active in pursuing a research agenda, putting people together on strategy, and figuring out how to move forward. This is in PCORI’s wheelhouse.
Finally, our advisory panel puts stakeholders from as many corners of the rare diseases space to review, discuss, and advise PCORI on its direction. In the beginning, the panel struggled with the idea of comparative effectiveness research in rare diseases, where 95 percent of the 7,000 rare diseases don’t even have one treatment.
I think over the past three years, the panel is starting to galvanize around research questions that are cross-cutting. Once we started to look at concerns such as care coordination, how to improve communication between providers and patients or caregivers, and how to navigate the healthcare system or to speed up the diagnosis journey, we identified a whole list of questions for PCORI to delve into. The panel could also invite and include experts from nontraditional stakeholders such as engineers that could bring innovative ideas or technologies to disrupt our thinking in studying rare disease. For example, using wearable devices to track and record patient symptoms and outcomes that reduces the burden of data collection.
Could you explain how rare disease research can be valuable to the health community at large?
Rare disease patients face similar issues as other patients relating to health care and access, such as care coordination, provider communication, and the like, but their experiences are often more complex, challenging, and devastating. Evidence generated and lessons learned from the rare disease community can be applied to the general population and vice versa. The opportunity here is amazing, and PCORI is well positioned to make progress in this area because we only march to the tune of patients and stakeholders.
As you approach the end of your tenure as chair of the advisory panel, how would you like to see the panel move forward?
I think we can be a true voice for the rare disease community—a place where patients can talk about their challenges and needs—and we can synthesize these challenges and use them to identify research priorities. Like Scott, I would also like to see the panel be a platform for outreach to enhance collaboration between entities with common goals to maximize our limited resources for rare disease research.
Additionally, I have started conversations with a group of PCORI Ambassadors to develop a network of ambassadors interested in rare disease. We hope to discuss the challenges and opportunities such as implementing strategies to increase awareness of PCORI and supporting dissemination and implementation of PCORI-generated rare disease evidence in the field.
You joined PCORI’s Advisory Panel on Rare Disease last fall. How will this complement the other work you do?
What draws me to PCORI, professionally and personally, is this parent-provider-patient connection. People talk about being patient centered, but PCORI walks the talk. It also dovetails with my work at the National Institute for Children's Health Quality (NICHQ). We are a nonprofit striving for deep, sustainable improvements in complex issues facing children’s health, particularly in underserved and under-resourced communities. Our partners and stakeholders—including public health professionals, nurses, providers, community-based organizations, and the families this work most affects—partner with us to come up with data-driven, sustainable solutions that achieve better outcomes for children and their families. In particular, our work to improve outcomes for children born with rare diseases, such as sickle cell disease and rare forms of childhood epilepsy, directly aligns with my work with PCORI and my personal experiences.
So, when you look at my work at NICHQ, my work with The Progeria Research Foundation, and then PCORI, it all comes together in a way that is very meaningful and purposeful for me, both in a professional sense and in a deeply personal one.
Despite your family’s education and background, what lessons from your journey are common among families affected by a rare disease?
It was quite an uphill battle. In the very beginning, kids with Progeria start out looking normal. The first thing that happens is they fail to thrive, or don’t grow. When we, as parents, went to doctors and said something was wrong, we got a whole range of answers. We were told we were over-worrying. We were told, ”Oh, you’re both doctors, you just know too much.“ In the end, it turned out that Sam had the rarest of rare diagnoses. From my perspective, if a parent tells you something is wrong, they’re usually right. We need to listen to parents and we need to listen to families.
Once you got Sam’s diagnosis, how did you proceed?
My wife was just starting her medical residency, which she immediately quit to go back into science to study Progeria. I had some experience with boards and board development, so I was looking at how we could build the foundation, while she was reading the literature and tackling the science. That’s rung true since the beginning.
Since then, we’ve connected with many family foundations to learn from them but also to help. While I respect individuals and families who choose to tackle their rare disease situations privately, I would bet that most are willing to talk to each other and help as best they can. We certainly feel that way. We were supported from the beginning and reciprocate as best we can when families reach out to us. We don’t have all the answers, but we did find the cause and we have a treatment. We just don’t quite have the cure yet.
What lessons have you learned from running the foundation and from working to promote rare disease research and awareness?
When it’s a condition as rare as Progeria, it can be very difficult to get support from people other than family and friends. I think we raised $75,000 in the first year, which seemed like a ton of money to us at the time. Now we are well over $2 million per year, and we need that to be higher to fund the research we want to fund in our quest for the cure.
Part of the responsibility I feel, and part of the reason I’m excited to be on the Advisory Panel for Rare Disease, is that even though Progeria is one of the many, many rare diseases, we have to remind people that when you combine all rare diseases, you’re talking about one in 10 people being affected in some way. And you can find commonalities and common lessons among them.
Each rare disease is like a grain of sand, but when you pull all the grains together, you have a beach. Kids with Progeria pass away from heart disease, which is the No. 1 killer of all Americans. So, yes, Progeria is extremely rare; however, in studying Progeria, the research could potentially provide us with answers to heart disease that affects us all.
In fact, there is now evidence that the abnormal protein that causes Progeria builds up in the blood vessels of all of us as we get older. Connections like this are not unusual when studying other rare diseases—everything we learn, each piece of sand, needs to come together to help our children and our families, to create that beach.
What do you hope to accomplish as a member of PCORI’s Advisory Panel on Rare Disease?
I think that outreach and raising awareness to other rare disease organizations, including advocacy organizations and family organizations, on a couple of fronts would be important.
First, for dialog and collaboration, because these organizations want to learn from one another so they don’t have to reinvent the wheel with their programs or research approaches. People have great hope and I think we should raise awareness and provide ready access to opportunities through PCORI that other organizations might not even be aware of.
For example, The Progeria Research Foundation has never put in an application for PCORI funding, and it’s most likely because we didn’t even know about PCORI’s rare disease resources and funding opportunities, including an opportunity for support of our international scientific meetings. So, outreach, collaboration, and raising awareness is one bucket.
Second, we can assist rare disease organizations with actually developing comparative effectiveness research proposals, which can seem daunting to some. We can give them a sense of opportunities that PCORI may provide to them, such as the systematic reviews that PCORI is doing, survey existing research and find out what gaps still exist, and then hopefully funding research to address them. I’m excited about the opportunities ahead.
The views expressed here are those of the authors and not necessarily those of PCORI.