How Patient-Centered Outcomes Research Helps Families With Rare Diseases

Despite the name, "rare diseases" affect 30 million Americans. And their impact is severe—some of these illnesses have no effective treatment, and many are debilitating and life threatening.

Yet each of the 7,000 or so diseases classified as rare affects fewer than 200,000 Americans, or one in every 1,500 people. Their rareness makes it difficult for patients and their families to find doctors with appropriate expertise, and for researchers to design studies involving small numbers of people scattered across the country.

PCORI funds patient-centered comparative clinical effectiveness research (CER) studies that will provide more and better care options for people with rare diseases. Our work is guided by our Advisory Panel on Rare Disease, which includes patients, caregivers, advocates, researchers, insurers, life sciences industry representatives, and clinicians. So today, PCORI joins organizations around the world in recognizing Rare Disease Day to raise awareness of these conditions, their impact on patients and their families, and how PCORI-funded research is trying to help. Two members of our advisory panel provided their perspectives.

How did your own experiences lead you to champion rare disease research?

Vincent Del Gaizo: My son was diagnosed in 2001 with a rare disease, systemic onset juvenile idiopathic arthritis, a form of childhood arthritis. He was 15 months old at the time. He was very, very sick. He had 106-degree fevers twice a day, couldn’t move a muscle, and was in an intensive care unit for a month while they tried to figure out what was wrong with him. It’s very difficult when the patient can’t talk and explain what’s going on.

When he was finally diagnosed, it was time to choose an intervention. There was literally nothing to say how to treat this kid. You’re sitting with your doctor and they say, we can try treatment A or B or C, and you ask, what are the chances they’ll work, what do we have to watch for? The answers were, we don’t know, we don’t know, we don’t know. From that day forward, I decided to try to find answers for my son so that I could make more informed decisions.

Patricia Furlong: My sons were diagnosed with Duchenne muscular dystrophy long ago, in 1984. I had been a nurse but when my two boys were diagnosed, I felt absolutely helpless and useless. I didn’t know what to do with a rare, genetic, progressive, debilitating, fatal disease.

The physician said this is a horrible diagnosis—they’re going to die before the age of 20—and that the disease would probably destroy my marriage and lead my older daughters not to be happy in the family because of a lack of parental attention. In 30 seconds, this physician said the people that you love the most are going to go away, all of them.

That broke my heart in ways that I can’t even describe. It also made me angry at medicine. I can’t imagine saying to any patient that there’s nothing to do, nothing at all. I decided I’m going to have to be as smart as I can about their disease, to find out what’s known and what’s unknown, what kinds of interventions could be applied, and how I can maintain the quality of my boys’ lives and our family life.

So little was known about Duchenne, and there was no investment in research at the time. I started an organization called Parent Project Muscular Dystrophy and we began raising money for research to fully characterize the disease. I worked with NIH and Congress to get attention and funding. The investments galvanized researchers as well as industry to try to intervene in a positive way.

What do you hope to accomplish with your work with PCORI?

Vincent Del Gaizo: Not long after my son was born, pediatric rheumatologists started a collaborative research network called CARRA, the Childhood Arthritis & Rheumatology Research Alliance. They asked me to join them at meetings and asked for my input on treatment decisions. I was very reluctant to speak and intimidated because I felt that I wasn’t qualified. But a doctor said to me, you’re a business owner, how do you know what your customers want? I said, I ask them. The doctor said, that’s what we’re doing. You’re our customer.

Flash forward to years later, PCORI forms and is changing the culture of research. Through an award from PCORnet (PCORI’s National Patient-Centered Clinical Research Network) to our network of patients and clinicians, called PARTNERS, pediatric rheumatology has been able to create infrastructure around patient-centered research.

But there are a lot of patient groups that are isolated. Further collaboration would be a terrific byproduct of PCORI work, and not just for researchers but for patients as well. Research empowers patients to get involved and engaged.

Patricia Furlong: Typically in rare disease, there’s considerable heterogeneity. In Duchenne, children lose the ability to walk sometime between 8 and 16 years old. No two 13-year-olds are alike.

We don’t have specific patient-reported outcomes relevant to Duchenne yet, but we can think about how to develop outcomes that are meaningful to the patient. With our PCORnet award, we’re working on that, to understand what’s really important to patients.

What we’d love to accomplish and what’s needed in rare disease is a network that is really efficient in conducting clinical trials in rare diseases. In Duchenne, for instance, a very limited number of sites can conduct clinical trials. PCORI for me is about where health research and clinical care should be, and that is putting the patients at the heart of the effort to change their outcomes.

What questions about rare disease would you answer if you possibly could?

Vincent Del Gaizo: As a parent, you always worry about whether you’re doing the right thing. My son leads a great life right now—he’s 15—but I don’t know if what I’ve exposed him to, medication-wise, is going to be problematic in the future. Did I do something wrong? The way that parents of kids with rare diseases sleep at night is that you say you went with the best information available at the time.

Patricia Furlong: I’d like to have a disease progression model for Duchenne, which would build on all the studies and natural histories that have been collected. I’d love to have a huge biomarkers consortium and understand genes that modify disease progression to help us understand why some children progress faster than others. And then I’d like outcome measures that are validated and include the entire population, including little, little boys recently diagnosed all the way through adults.