Topic Spotlight

Rare Diseases

PCORI Answers Critical Questions

Treating rare diseases presents serious challenges. Diagnoses are often difficult; specialized, coordinated care is in short supply; and standards of care for treatment are limited. PCORI is funding comparative clinical effectiveness research that will provide answers to such questions as:

Parent: Dietary therapy is effective for my child’s eosinophilic esophagitis, which is an allergic inflammation of the esophagus. But dietary therapy requires a huge commitment. Is there a simpler and effective diet-management protocol that could be a better option?

Pediatrician: I provide chemotherapy to children with acute myeloid leukemia, an aggressive form of leukemia. The chemotherapy raises patients’ risk of developing a bloodstream infection for weeks following treatment. Is it better to keep patients in the hospital for close monitoring after treatment? Or should I allow them to go home and return if there is a concern about infection?

Patient: I have recently been diagnosed with kidney disease caused by my lupus. I would like more information about the treatment options available to me as a patient who hasn’t shown any signs of renal failure.

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.

Journal Article Highlight

An overview of the impact of rare disease characteristics on research methodology
This paper, published in the Orphanet Journal of Rare Diseases, seeks to raise awareness of the available methodological approaches for rare disease research through a report on the findings of a search of the peer-reviewed literature and a description of the ways in which registries and other infrastructure can support research endeavors. It also includes a review of the rare disease studies within PCORI’s portfolio to understand which designs and analytic techniques are frequently used by PCORI investigators and the goals associated with infrastructure development.

Rare Diseases Portfolio Snapshot

Most studied rare diseases by PCORI-funded projects.
Cerebral palsy (2) Acute myeloid leukemia (2) Sickle cell disease (6) Others (19) including hydrocephelus, duarte galactiosemia, disorders of sex development, lupus nephritis, pediatric Chron's di