Patient-Centered Approaches to Sickle Cell Disease

September is Sickle Cell Awareness Month, an opportunity for an update on PCORI-funded projects that focus on the nation’s most common genetic blood disorder. We also look forward to adding to our portfolio of research projects through a new funding opportunity related to the Management of Care Transitions for Emerging Adults with Sickle Cell Disease. (Note: World Sickle Cell Awareness Day is also observed annually on June 19.)

Sickle cell disease is a hereditary red blood cell disorder that affects approximately 100,000 Americans and causes severe anemia. It is most common among African Americans, occurring in 1 out of every 365 births. People with the disease have abnormal hemoglobin, a protein that carries oxygen, and it transforms their red blood cells from a healthy disk shape into a crescent, or sickle. The misshapen cells can block blood flow and limit oxygen from reaching tissues, which causes pain that can be severe enough to send patients to the hospital or prevent them from being able to work. Common complications of the disease can include stroke, pulmonary hypertension, organ damage, and blindness.

The only known potential cure for sickle cell disease is a bone marrow transplant, but finding a matching donor is extremely difficult, and the surgery itself is risky. So, treatment usually focuses on preventing or relieving pain and complications. Because patients with sickle cell disease are prone to infection, they are strongly encouraged to receive routine vaccinations.

New Call for Projects on Young Adults

One of our recent funding announcements calls for proposals related to care transitions that occur as young adults, aged 16 to 25, with sickle cell disease move from pediatric to adult care. Healthcare stakeholders had identified sickle cell disease as a research topic, and a multi-stakeholder workshop proposed research questions that led to the funding announcement.

Why the focus on young adults? First, the life expectancy for patients with sickle cell disease has increased, allowing growing numbers of children with the disease to live into adulthood. Second, the quality of health care often decreases as patients move from pediatric to adult care. Young adults with sickle cell disease average five emergency room visits per year, while the annual average across people with sickle cell disease in other age groups is three.

With our funding announcement, we’re looking for projects that compare ways to help ensure that young adults maintain a high level of health care in order to prevent future complications. In June 2017, we expect to announce up to three studies, each to receive as much as $8 million.

Building a Network of Patients and Caregivers

Among the projects we’ve already funded is one at Vanderbilt University that is building a network for sickle cell patients and their caregivers to connect with peers across Tennessee. The project received a Eugene Washington PCORI Engagement Award, intended to bring more patients, caregivers, clinicians, and other healthcare stakeholders, from both rural and urban communities, into the research process.

The Tennessee Sickle Cell Disease Network offers social support as well as increased access to education, medical care, and opportunities to engage in research with the help of community ambassadors. Health fairs, hospitals and community centers, and social media have spread the word about the project, especially within the African-American community.

In addition to engagement projects, we have funded a variety of comparative clinical effectiveness research projects related to sickle cell disease (see box). Rare diseases are of special interest to PCORI, and this illness is among the most common rare diseases.

As we observe Sickle Cell Awareness Month, we know that much work needs to be done to provide patients and providers with the information they need to make the best choices about care, and for patients to engage with their peers in meaningful roles in the research that is required.