Possible number of Americans affect by a rare disease (Centers for Disease Control).
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.
The maximum number of people a disease can affect to be classified as rare (Centers for Disease Control).
Study Results that Support Better-Informed Decisions
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.
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.