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Rare Diseases

Topic Spotlight

25

AN estimated 25 million Americans are affected by a rare disease. (Centers for Disease Control)

36

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)

200,000

An estimated 200,000 people in the United States have a disease that can be classified as rare. (Centers for Disease Control)


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.

View the Database

Conducting CER in the Rare Disease Space

Mathew J. Edick, PhD — chair of the PCORI Advisory Panel on Rare Disease and a father of a child with a rare disease — shares how comparative clinical effectiveness research (CER) differs from other types of healthcare research and its importance to rare disease communities.

Engaging Rare Disease Stakeholders in Research

Danielle Boyce, MPH, DPA — a member of the PCORI Advisory Panel on Rare Disease and a mother of a child with a rare disease — shares some tips on what to consider and how best to approach and engage members of the rare disease community in healthcare research.

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

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.