Rare Diseases

Topic Spotlight

25 M

Possible number of Americans affect by a rare disease (Centers for Disease Control).

35

Comparative clinical effectiveness research studies funded by PCORI to help patients and their caregivers make better-informed decisions about their options for treating rare diseases.

200,000

The maximum number of people a disease can affect to be classified as rare (Centers for Disease Control).

Study Spotlight

Improving Discussions on Treatment Options for Lupus Nephritis

Jasvinder Singh, MD, MPH, at the University of Alabama at Birmingham, developed a decision aid under a PCORI-funded research award to help African-American and Hispanic patients have quality discussions with their clinicians regarding treatment options for lupus nephritis, a rare disease that affects young women. His team is now working to expand the decision aid’s use in clinical practice with a PCORI dissemination and implementation award.

Study Results that Support Better-Informed Decisions

Treating Pain in Adults with Sickle Cell Disease

Findings from a PCORI-funded study published in the Annals of Internal Medicine show promise for improving care of individuals living with sickle cell disease (SCD) in the United States, who historically have been underserved by the medical community. Researchers compared treatment for patients with uncomplicated vaso-occlusive crisis (VOC) in emergency rooms (ERs) and infusion centers. VOC is the most prevalent SCD complication and causes acute, excruciating pain that most commonly is treated in ERs. Patients receiving care in infusion centers reported waiting less time—about half as long—for pain medicine than ER patients. They also were more likely to receive care adhering to guidelines for the management of acute pain and less likely to be admitted to the hospital.

Rare Disease Study Spotlights

Effects of Oxygen Treatments on Patients with Pulmonary Fibrosis

Many doctors prescribe supplemental oxygen for patients with PF. The oxygen equipment can be hard to handle, making it difficult for people to leave the house. Little research has been done on whether oxygen treatment is helpful. This project compared the breathing and physical activity of patients given supplemental oxygen to that of those who were not to determine benefits and downsides. Researchers found that while patients with supplemental oxygen reported improvement in their symptoms, they felt frustrated with the equipment and judged in public.

Comparing Patient-Centered Outcomes in the Management of Pain for Adults with Sickle Cell Disease

A common complication of sickle cell disease is a constriction of blood vessels, which causes severe pain. Patients often report that their pain relief is insufficient and doctors don’t involve them in treatment decisions. This study is comparing whether care delivered in an infusion center staffed by expert clinicians is more effective for treating and managing pain than care delivered in an emergency department.