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.

What Can Big Data Do for Rare Diseases?

PCORnet harnesses big data, which can help researchers tackling rare diseases. Megan O’Boyle, whose daughter was diagnosed with Phelan-McDermid Syndrome, shares how research networks can improve communication between clinicians working with patients and researchers searching for solutions. In 2011, the Phelan-McDermid Syndrome Foundation launched an international patient registry to generate investigator interest and enable parents to characterize the condition for the research community.

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.

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