Over the past year, PCORI have more than doubled the number of rare disease studies in our research portfolio, and those 21 awards address a diverse set of conditions. PCORI’s authorizing law calls for a focus on rare diseases, which have been defined as conditions that affect fewer than 200,000 people in the United States.
To demonstrate our commitment to research on rare disease, last February we announced a special pool of funding, $12 million awarded through our broad PCORI Funding Announcements (PFAs), for studies that focus on rare diseases. We held a webinar to inform the rare disease community about these funds and encourage researchers to partner with rare disease patients to submit proposals for funding. On September 28, our Board of Governors approved three studies to be funded through this pool, projects that will compare treatments for urea cycle disorders, genetic disorders caused by the liver’s inability to break down ammonia; non-cystic fibrosis bronchiectasis, a rare lung disease; and syringomyelia, a debilitating neurological condition.
Over this time period, we received a number of questions regarding what types of projects on rare diseases align with our mission and vision. To address these questions, we have now developed a formal guidance to advise the research community.