Over the past year, we 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.
What Type of Rare Disease Research Will PCORI Fund?
We are interested in funding patient-centered comparative effectiveness research (CER) that addresses outstanding questions about the prevention, diagnosis, and treatment of rare diseases. Investigators applying for PCORI funding must explain how the study they propose will address a realistic clinical choice and decisional dilemma faced by patients and providers. Investigators should describe how the interventions to be studied are currently used in clinical practice.
PCORI requires that all studies compare two difference approaches for prevention, diagnosis, treatment or care delivery. We prefer studies comparing at least two interventions as opposed to studies that compare an intervention to standard of care. If this is not possible, applicants should describe what treatment the control group will receive and how it will be monitored over the course of the study in each patient. Investigators must also describe the existing evidence on the proposed interventions, even if the data are limited, as it often is for rare diseases.
Because we are interested in funding comparisons of real-world clinical options, proposed studies will not qualify if there are no efficacy data or the proposed interventions are not considered a clinical option for individuals with a given rare disease. The table below describes the differences for common diseases versus rare diseases in PCORI’s requirements for patient-centered CER.
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Table 1: Comparison of PCORI Requirements for Patient-centered CER in Common versus Rare Clinical Conditions |
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|---|---|---|
| Common Disease | Rare Diseases | |
| Commonly Used |
The intervention(s) should be used by physicians and/or health care systems across the United States for treatment of individuals with the condition being studied. |
The intervention(s) should be considered a realistic clinical choice for individuals with a given rare disease even if the intervention is not widely offered in health care systems across the country since individuals with a given rare disease are often treated in centers that specialize in that disease. |
| Evidence Based |
The intervention(s) should have been previously studied in at least one adequately powered efficacy study. |
The intervention(s) should have been previously studied. PCORI may consider applications that involve interventions with limited evidence if the application meets the other criterion described above. |
| Comparators |
PCORI prefers comparisons of two interventions. If this is not possible, applicants should specifically describe what the control group will receive and how this will be measured over the course of the study in each patient. |
PCORI prefers comparisons of two interventions. If this is not possible, applicants should specifically describe what the control group will receive and how this will be measured over the course of the study in each patient. |
Examples of Funded Studies
PCORI-funded projects focused on rare disease can be found on the PCORI website. These include awards under our Eugene Washington PCORI Engagement Awards initiative and Pipeline to Proposal Award program, as well as research projects. Our focus on rare disease is also reflected in the work of the research networks that make up PCORnet, the national patient-centered clinical research network.
We have incorporated our new guidance on rare disease research into our Applicant FAQs. If you have further questions, please visit our Help Center to submit a ticket. Program staff are happy to speak with potential applicants about their research ideas and address additional questions.
