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.

Rare Disease Study Spotlights

Treatment of Juvenile Arthritis

Polyarticular juvenile idiopathic arthritis is a type of juvenile arthritis that affects five or more joints. It causes joint stiffness and can also lead to problems with bone development and growth. It is often treated with biologic medicines—medicines based on substances found in living things—after nonbiologics prove to be less effective. This project is comparing the use of biologic and nonbiologic medicines as first-line treatments to determine which type is more effective at lessening bone or joint damage and which causes fewer side effects.

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.

Making a Difference for Children with Progeria: From Obscurity to Treatment and Beyond

2019 PCORI Annual Opening Keynote

This opening keynote session highlighted the speakers' story of their late son and their commitment to finding a cure for progeria, the rare disease he was diagnosed with shortly before his second birthday.

Watch the Session

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