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Rare Diseases
Topic Spotlight
An estimated 25 million Americans are affected by a rare disease. (Centers for Disease Control)
PCORI has funded 36 comparative clinical effectiveness research studies that aim to help patients and their caregivers make better-informed decisions about their options for treating rare diseases. (As of February 2022)
An estimated 200,000 people in the United States have a disease that can be classified as rare. (Centers for Disease Control)
Rare Disease Day 2023 Spotlight
The KIDCARE Study: Exploring Treatment Strategies for Rare Pediatric Illness
February 28 is Rare Disease Day and the last day of National Heart Month! In recognition of heart disease and rare diseases, PCORI spotlights Kawasaki disease—a rare form of cardiovascular disease that mainly affects children.
Kawasaki disease can lead to dangerous inflammation of the arteries that bring blood to the heart. The cause of Kawasaki disease is unknown, and few studies have been performed to evaluate therapy for children with persistent symptoms despite treatment.
Read about the PCORI-funded KIDCARE Study, which compared treatment approaches for this rare condition
Database Identifies Emerging Technologies, Innovations
PCORI's Health Care Horizon Scanning System identifies and monitors new and emerging healthcare technologies and innovations with high potential to change the current standard of care. This systematic process informs PCORI’s investments in patient-centered outcomes research.
PCORI’s Horizon Scanning Database offers healthcare decision makers findings about advancements in six key areas of interest: Alzheimer’s disease and other dementias, cancer, cardiovascular diseases, COVID-19, mental and behavioral health, and rare diseases. This database can be used by patients, care partners, and others to track advancements in care options.
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.
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.
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.